nsv3318432

Organism: Homo sapiens

Study:nstd157 (Frenkel et al. 2019)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37 (hg19)

Variant Calls:41
Validation:Not tested
Clinical Assertions: No
Region Size:10,196

Publication(s):Frenkel et al. 2019

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 799 SVs from 86 studies. See in: genome view

Remapped(Score: Perfect):5,737,989-5,748,184

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3318432	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	5,737,989	5,748,184
nsv3318432	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	5,595,511	5,605,706

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14467868	copy number loss	M2113	SNP array	SNP genotyping analysis	15
nssv14468145	copy number loss	M2130	SNP array	SNP genotyping analysis	26
nssv14468354	copy number loss	M2143	SNP array	SNP genotyping analysis	20
nssv14468423	copy number loss	M2150	SNP array	SNP genotyping analysis	19
nssv14468686	copy number loss	M2175	SNP array	SNP genotyping analysis	20
nssv14468750	copy number loss	M2178	SNP array	SNP genotyping analysis	15
nssv14468948	copy number loss	M2191	SNP array	SNP genotyping analysis	24
nssv14469114	copy number loss	M2201	SNP array	SNP genotyping analysis	16
nssv14469131	copy number loss	M2203	SNP array	SNP genotyping analysis	16
nssv14469215	copy number loss	M2216	SNP array	SNP genotyping analysis	19
nssv14469254	copy number loss	M2218	SNP array	SNP genotyping analysis	21
nssv14469272	copy number loss	M2219	SNP array	SNP genotyping analysis	16
nssv14469526	copy number loss	M2245	SNP array	SNP genotyping analysis	10
nssv14469638	copy number loss	M2255	SNP array	SNP genotyping analysis	20
nssv14469805	copy number loss	M2269	SNP array	SNP genotyping analysis	19
nssv14469987	copy number loss	M2292	SNP array	SNP genotyping analysis	17
nssv14470157	copy number loss	M2315	SNP array	SNP genotyping analysis	17
nssv14470190	copy number loss	M2319	SNP array	SNP genotyping analysis	20
nssv14470229	copy number loss	M2321	SNP array	SNP genotyping analysis	20
nssv14470246	copy number loss	M2322	SNP array	SNP genotyping analysis	16
nssv14470264	copy number loss	M2323	SNP array	SNP genotyping analysis	19
nssv14470339	copy number loss	M2331	SNP array	SNP genotyping analysis	21
nssv14470401	copy number loss	M2337	SNP array	SNP genotyping analysis	36
nssv14470421	copy number loss	M2338	SNP array	SNP genotyping analysis	17
nssv14470506	copy number loss	M2351	SNP array	SNP genotyping analysis	14
nssv14470536	copy number loss	M2355	SNP array	SNP genotyping analysis	11
nssv14470586	copy number loss	M2360	SNP array	SNP genotyping analysis	9
nssv14470648	copy number loss	M2363	SNP array	SNP genotyping analysis	22
nssv14470694	copy number loss	M2369	SNP array	SNP genotyping analysis	22
nssv14470710	copy number loss	M2370	SNP array	SNP genotyping analysis	18
nssv14470729	copy number loss	M2371	SNP array	SNP genotyping analysis	19
nssv14470893	copy number loss	M2390	SNP array	SNP genotyping analysis	13
nssv14470991	copy number loss	M2397	SNP array	SNP genotyping analysis	13
nssv14471161	copy number loss	M2418	SNP array	SNP genotyping analysis	18
nssv14471423	copy number loss	M2443	SNP array	SNP genotyping analysis	15
nssv14471615	copy number loss	M2465	SNP array	SNP genotyping analysis	20
nssv14471627	copy number loss	M2466	SNP array	SNP genotyping analysis	14
nssv14471642	copy number loss	M2468	SNP array	SNP genotyping analysis	15
nssv14471693	copy number loss	M2477	SNP array	SNP genotyping analysis	20
nssv14471715	copy number loss	M2482	SNP array	SNP genotyping analysis	21
nssv14471955	copy number loss	M2507	SNP array	SNP genotyping analysis	19

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv14467868	Remapped	Perfect	NC_000008.11:g.(?_ 5737989)_(5748184_ ?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	5,737,989	5,748,184
nssv14468145	Remapped	Perfect	NC_000008.11:g.(?_ 5737989)_(5748184_ ?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	5,737,989	5,748,184
nssv14468354	Remapped	Perfect	NC_000008.11:g.(?_ 5737989)_(5748184_ ?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	5,737,989	5,748,184
nssv14468423	Remapped	Perfect	NC_000008.11:g.(?_ 5737989)_(5748184_ ?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	5,737,989	5,748,184
nssv14468686	Remapped	Perfect	NC_000008.11:g.(?_ 5737989)_(5748184_ ?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	5,737,989	5,748,184
nssv14468750	Remapped	Perfect	NC_000008.11:g.(?_ 5737989)_(5748184_ ?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	5,737,989	5,748,184
nssv14468948	Remapped	Perfect	NC_000008.11:g.(?_ 5737989)_(5748184_ ?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	5,737,989	5,748,184
nssv14469114	Remapped	Perfect	NC_000008.11:g.(?_ 5737989)_(5748184_ ?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	5,737,989	5,748,184
nssv14469131	Remapped	Perfect	NC_000008.11:g.(?_ 5737989)_(5748184_ ?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	5,737,989	5,748,184
nssv14469215	Remapped	Perfect	NC_000008.11:g.(?_ 5737989)_(5748184_ ?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	5,737,989	5,748,184
nssv14469254	Remapped	Perfect	NC_000008.11:g.(?_ 5737989)_(5748184_ ?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	5,737,989	5,748,184
nssv14469272	Remapped	Perfect	NC_000008.11:g.(?_ 5737989)_(5748184_ ?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	5,737,989	5,748,184
nssv14469526	Remapped	Perfect	NC_000008.11:g.(?_ 5737989)_(5748184_ ?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	5,737,989	5,748,184
nssv14469638	Remapped	Perfect	NC_000008.11:g.(?_ 5737989)_(5748184_ ?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	5,737,989	5,748,184
nssv14469805	Remapped	Perfect	NC_000008.11:g.(?_ 5737989)_(5748184_ ?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	5,737,989	5,748,184
nssv14469987	Remapped	Perfect	NC_000008.11:g.(?_ 5737989)_(5748184_ ?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	5,737,989	5,748,184
nssv14470157	Remapped	Perfect	NC_000008.11:g.(?_ 5737989)_(5748184_ ?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	5,737,989	5,748,184
nssv14470190	Remapped	Perfect	NC_000008.11:g.(?_ 5737989)_(5748184_ ?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	5,737,989	5,748,184
nssv14470229	Remapped	Perfect	NC_000008.11:g.(?_ 5737989)_(5748184_ ?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	5,737,989	5,748,184
nssv14470246	Remapped	Perfect	NC_000008.11:g.(?_ 5737989)_(5748184_ ?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	5,737,989	5,748,184
nssv14470264	Remapped	Perfect	NC_000008.11:g.(?_ 5737989)_(5748184_ ?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	5,737,989	5,748,184
nssv14470339	Remapped	Perfect	NC_000008.11:g.(?_ 5737989)_(5748184_ ?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	5,737,989	5,748,184
nssv14470401	Remapped	Perfect	NC_000008.11:g.(?_ 5737989)_(5748184_ ?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	5,737,989	5,748,184
nssv14470421	Remapped	Perfect	NC_000008.11:g.(?_ 5737989)_(5748184_ ?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	5,737,989	5,748,184
nssv14470506	Remapped	Perfect	NC_000008.11:g.(?_ 5737989)_(5748184_ ?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	5,737,989	5,748,184
nssv14470536	Remapped	Perfect	NC_000008.11:g.(?_ 5737989)_(5748184_ ?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	5,737,989	5,748,184
nssv14470586	Remapped	Perfect	NC_000008.11:g.(?_ 5737989)_(5748184_ ?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	5,737,989	5,748,184
nssv14470648	Remapped	Perfect	NC_000008.11:g.(?_ 5737989)_(5748184_ ?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	5,737,989	5,748,184
nssv14470694	Remapped	Perfect	NC_000008.11:g.(?_ 5737989)_(5748184_ ?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	5,737,989	5,748,184
nssv14470710	Remapped	Perfect	NC_000008.11:g.(?_ 5737989)_(5748184_ ?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	5,737,989	5,748,184
nssv14470729	Remapped	Perfect	NC_000008.11:g.(?_ 5737989)_(5748184_ ?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	5,737,989	5,748,184
nssv14470893	Remapped	Perfect	NC_000008.11:g.(?_ 5737989)_(5748184_ ?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	5,737,989	5,748,184
nssv14470991	Remapped	Perfect	NC_000008.11:g.(?_ 5737989)_(5748184_ ?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	5,737,989	5,748,184
nssv14471161	Remapped	Perfect	NC_000008.11:g.(?_ 5737989)_(5748184_ ?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	5,737,989	5,748,184
nssv14471423	Remapped	Perfect	NC_000008.11:g.(?_ 5737989)_(5748184_ ?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	5,737,989	5,748,184
nssv14471615	Remapped	Perfect	NC_000008.11:g.(?_ 5737989)_(5748184_ ?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	5,737,989	5,748,184
nssv14471627	Remapped	Perfect	NC_000008.11:g.(?_ 5737989)_(5748184_ ?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	5,737,989	5,748,184
nssv14471642	Remapped	Perfect	NC_000008.11:g.(?_ 5737989)_(5748184_ ?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	5,737,989	5,748,184
nssv14471693	Remapped	Perfect	NC_000008.11:g.(?_ 5737989)_(5748184_ ?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	5,737,989	5,748,184
nssv14471715	Remapped	Perfect	NC_000008.11:g.(?_ 5737989)_(5748184_ ?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	5,737,989	5,748,184
nssv14471955	Remapped	Perfect	NC_000008.11:g.(?_ 5737989)_(5748184_ ?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	5,737,989	5,748,184
nssv14467868	Submitted genomic		NC_000008.10:g.(?_ 5595511)_(5605706_ ?)del	GRCh37 (hg19)		NC_000008.10	Chr8	5,595,511	5,605,706
nssv14468145	Submitted genomic		NC_000008.10:g.(?_ 5595511)_(5605706_ ?)del	GRCh37 (hg19)		NC_000008.10	Chr8	5,595,511	5,605,706
nssv14468354	Submitted genomic		NC_000008.10:g.(?_ 5595511)_(5605706_ ?)del	GRCh37 (hg19)		NC_000008.10	Chr8	5,595,511	5,605,706
nssv14468423	Submitted genomic		NC_000008.10:g.(?_ 5595511)_(5605706_ ?)del	GRCh37 (hg19)		NC_000008.10	Chr8	5,595,511	5,605,706
nssv14468686	Submitted genomic		NC_000008.10:g.(?_ 5595511)_(5605706_ ?)del	GRCh37 (hg19)		NC_000008.10	Chr8	5,595,511	5,605,706
nssv14468750	Submitted genomic		NC_000008.10:g.(?_ 5595511)_(5605706_ ?)del	GRCh37 (hg19)		NC_000008.10	Chr8	5,595,511	5,605,706
nssv14468948	Submitted genomic		NC_000008.10:g.(?_ 5595511)_(5605706_ ?)del	GRCh37 (hg19)		NC_000008.10	Chr8	5,595,511	5,605,706
nssv14469114	Submitted genomic		NC_000008.10:g.(?_ 5595511)_(5605706_ ?)del	GRCh37 (hg19)		NC_000008.10	Chr8	5,595,511	5,605,706
nssv14469131	Submitted genomic		NC_000008.10:g.(?_ 5595511)_(5605706_ ?)del	GRCh37 (hg19)		NC_000008.10	Chr8	5,595,511	5,605,706
nssv14469215	Submitted genomic		NC_000008.10:g.(?_ 5595511)_(5605706_ ?)del	GRCh37 (hg19)		NC_000008.10	Chr8	5,595,511	5,605,706
nssv14469254	Submitted genomic		NC_000008.10:g.(?_ 5595511)_(5605706_ ?)del	GRCh37 (hg19)		NC_000008.10	Chr8	5,595,511	5,605,706
nssv14469272	Submitted genomic		NC_000008.10:g.(?_ 5595511)_(5605706_ ?)del	GRCh37 (hg19)		NC_000008.10	Chr8	5,595,511	5,605,706
nssv14469526	Submitted genomic		NC_000008.10:g.(?_ 5595511)_(5605706_ ?)del	GRCh37 (hg19)		NC_000008.10	Chr8	5,595,511	5,605,706
nssv14469638	Submitted genomic		NC_000008.10:g.(?_ 5595511)_(5605706_ ?)del	GRCh37 (hg19)		NC_000008.10	Chr8	5,595,511	5,605,706
nssv14469805	Submitted genomic		NC_000008.10:g.(?_ 5595511)_(5605706_ ?)del	GRCh37 (hg19)		NC_000008.10	Chr8	5,595,511	5,605,706
nssv14469987	Submitted genomic		NC_000008.10:g.(?_ 5595511)_(5605706_ ?)del	GRCh37 (hg19)		NC_000008.10	Chr8	5,595,511	5,605,706
nssv14470157	Submitted genomic		NC_000008.10:g.(?_ 5595511)_(5605706_ ?)del	GRCh37 (hg19)		NC_000008.10	Chr8	5,595,511	5,605,706
nssv14470190	Submitted genomic		NC_000008.10:g.(?_ 5595511)_(5605706_ ?)del	GRCh37 (hg19)		NC_000008.10	Chr8	5,595,511	5,605,706
nssv14470229	Submitted genomic		NC_000008.10:g.(?_ 5595511)_(5605706_ ?)del	GRCh37 (hg19)		NC_000008.10	Chr8	5,595,511	5,605,706
nssv14470246	Submitted genomic		NC_000008.10:g.(?_ 5595511)_(5605706_ ?)del	GRCh37 (hg19)		NC_000008.10	Chr8	5,595,511	5,605,706
nssv14470264	Submitted genomic		NC_000008.10:g.(?_ 5595511)_(5605706_ ?)del	GRCh37 (hg19)		NC_000008.10	Chr8	5,595,511	5,605,706
nssv14470339	Submitted genomic		NC_000008.10:g.(?_ 5595511)_(5605706_ ?)del	GRCh37 (hg19)		NC_000008.10	Chr8	5,595,511	5,605,706
nssv14470401	Submitted genomic		NC_000008.10:g.(?_ 5595511)_(5605706_ ?)del	GRCh37 (hg19)		NC_000008.10	Chr8	5,595,511	5,605,706
nssv14470421	Submitted genomic		NC_000008.10:g.(?_ 5595511)_(5605706_ ?)del	GRCh37 (hg19)		NC_000008.10	Chr8	5,595,511	5,605,706
nssv14470506	Submitted genomic		NC_000008.10:g.(?_ 5595511)_(5605706_ ?)del	GRCh37 (hg19)		NC_000008.10	Chr8	5,595,511	5,605,706
nssv14470536	Submitted genomic		NC_000008.10:g.(?_ 5595511)_(5605706_ ?)del	GRCh37 (hg19)		NC_000008.10	Chr8	5,595,511	5,605,706
nssv14470586	Submitted genomic		NC_000008.10:g.(?_ 5595511)_(5605706_ ?)del	GRCh37 (hg19)		NC_000008.10	Chr8	5,595,511	5,605,706
nssv14470648	Submitted genomic		NC_000008.10:g.(?_ 5595511)_(5605706_ ?)del	GRCh37 (hg19)		NC_000008.10	Chr8	5,595,511	5,605,706
nssv14470694	Submitted genomic		NC_000008.10:g.(?_ 5595511)_(5605706_ ?)del	GRCh37 (hg19)		NC_000008.10	Chr8	5,595,511	5,605,706
nssv14470710	Submitted genomic		NC_000008.10:g.(?_ 5595511)_(5605706_ ?)del	GRCh37 (hg19)		NC_000008.10	Chr8	5,595,511	5,605,706
nssv14470729	Submitted genomic		NC_000008.10:g.(?_ 5595511)_(5605706_ ?)del	GRCh37 (hg19)		NC_000008.10	Chr8	5,595,511	5,605,706
nssv14470893	Submitted genomic		NC_000008.10:g.(?_ 5595511)_(5605706_ ?)del	GRCh37 (hg19)		NC_000008.10	Chr8	5,595,511	5,605,706
nssv14470991	Submitted genomic		NC_000008.10:g.(?_ 5595511)_(5605706_ ?)del	GRCh37 (hg19)		NC_000008.10	Chr8	5,595,511	5,605,706
nssv14471161	Submitted genomic		NC_000008.10:g.(?_ 5595511)_(5605706_ ?)del	GRCh37 (hg19)		NC_000008.10	Chr8	5,595,511	5,605,706
nssv14471423	Submitted genomic		NC_000008.10:g.(?_ 5595511)_(5605706_ ?)del	GRCh37 (hg19)		NC_000008.10	Chr8	5,595,511	5,605,706
nssv14471615	Submitted genomic		NC_000008.10:g.(?_ 5595511)_(5605706_ ?)del	GRCh37 (hg19)		NC_000008.10	Chr8	5,595,511	5,605,706
nssv14471627	Submitted genomic		NC_000008.10:g.(?_ 5595511)_(5605706_ ?)del	GRCh37 (hg19)		NC_000008.10	Chr8	5,595,511	5,605,706
nssv14471642	Submitted genomic		NC_000008.10:g.(?_ 5595511)_(5605706_ ?)del	GRCh37 (hg19)		NC_000008.10	Chr8	5,595,511	5,605,706
nssv14471693	Submitted genomic		NC_000008.10:g.(?_ 5595511)_(5605706_ ?)del	GRCh37 (hg19)		NC_000008.10	Chr8	5,595,511	5,605,706
nssv14471715	Submitted genomic		NC_000008.10:g.(?_ 5595511)_(5605706_ ?)del	GRCh37 (hg19)		NC_000008.10	Chr8	5,595,511	5,605,706
nssv14471955	Submitted genomic		NC_000008.10:g.(?_ 5595511)_(5605706_ ?)del	GRCh37 (hg19)		NC_000008.10	Chr8	5,595,511	5,605,706

dbVar

Database of genomic structural variation

nsv3318432

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant