nsv3318308

Organism: Homo sapiens

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

Variant Calls:19
Validation:Not tested
Clinical Assertions: No
Region Size:17,097

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: 398 SVs from 73 studies. See in: genome view

Remapped(Score: Perfect):19,934,218-19,951,314

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3318308	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	19,934,218	19,951,314
nsv3318308	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	19,945,540	19,962,636

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14467636	copy number loss	M1153	SNP array	SNP genotyping analysis	12
nssv14467696	copy number loss	M1336	SNP array	SNP genotyping analysis	19
nssv14467859	copy number loss	M2113	SNP array	SNP genotyping analysis	15
nssv14467910	copy number loss	M2116	SNP array	SNP genotyping analysis	21
nssv14468338	copy number loss	M2143	SNP array	SNP genotyping analysis	20
nssv14468537	copy number loss	M2162	SNP array	SNP genotyping analysis	6
nssv14469051	copy number loss	M2197	SNP array	SNP genotyping analysis	20
nssv14469225	copy number loss	M2217	SNP array	SNP genotyping analysis	18
nssv14469265	copy number loss	M2219	SNP array	SNP genotyping analysis	16
nssv14469276	copy number loss	M2220	SNP array	SNP genotyping analysis	12
nssv14469289	copy number loss	M2221	SNP array	SNP genotyping analysis	11
nssv14469297	copy number loss	M2222	SNP array	SNP genotyping analysis	9
nssv14469582	copy number loss	M2250	SNP array	SNP genotyping analysis	15
nssv14469811	copy number loss	M2272	SNP array	SNP genotyping analysis	13
nssv14470733	copy number loss	M2372	SNP array	SNP genotyping analysis	17
nssv14471260	copy number loss	M2428	SNP array	SNP genotyping analysis	23
nssv14471299	copy number loss	M2431	SNP array	SNP genotyping analysis	12
nssv14471398	copy number loss	M2438	SNP array	SNP genotyping analysis	18
nssv14471479	copy number loss	M2456	SNP array	SNP genotyping analysis	29

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv14467636	Remapped	Perfect	NC_000016.10:g.(?_ 19934218)_(1995131 4_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	19,934,218	19,951,314
nssv14467696	Remapped	Perfect	NC_000016.10:g.(?_ 19934218)_(1995131 4_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	19,934,218	19,951,314
nssv14467859	Remapped	Perfect	NC_000016.10:g.(?_ 19934218)_(1995131 4_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	19,934,218	19,951,314
nssv14467910	Remapped	Perfect	NC_000016.10:g.(?_ 19934218)_(1995131 4_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	19,934,218	19,951,314
nssv14468338	Remapped	Perfect	NC_000016.10:g.(?_ 19934218)_(1995131 4_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	19,934,218	19,951,314
nssv14468537	Remapped	Perfect	NC_000016.10:g.(?_ 19934218)_(1995131 4_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	19,934,218	19,951,314
nssv14469051	Remapped	Perfect	NC_000016.10:g.(?_ 19934218)_(1995131 4_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	19,934,218	19,951,314
nssv14469225	Remapped	Perfect	NC_000016.10:g.(?_ 19934218)_(1995131 4_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	19,934,218	19,951,314
nssv14469265	Remapped	Perfect	NC_000016.10:g.(?_ 19934218)_(1995131 4_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	19,934,218	19,951,314
nssv14469276	Remapped	Perfect	NC_000016.10:g.(?_ 19934218)_(1995131 4_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	19,934,218	19,951,314
nssv14469289	Remapped	Perfect	NC_000016.10:g.(?_ 19934218)_(1995131 4_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	19,934,218	19,951,314
nssv14469297	Remapped	Perfect	NC_000016.10:g.(?_ 19934218)_(1995131 4_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	19,934,218	19,951,314
nssv14469582	Remapped	Perfect	NC_000016.10:g.(?_ 19934218)_(1995131 4_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	19,934,218	19,951,314
nssv14469811	Remapped	Perfect	NC_000016.10:g.(?_ 19934218)_(1995131 4_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	19,934,218	19,951,314
nssv14470733	Remapped	Perfect	NC_000016.10:g.(?_ 19934218)_(1995131 4_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	19,934,218	19,951,314
nssv14471260	Remapped	Perfect	NC_000016.10:g.(?_ 19934218)_(1995131 4_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	19,934,218	19,951,314
nssv14471299	Remapped	Perfect	NC_000016.10:g.(?_ 19934218)_(1995131 4_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	19,934,218	19,951,314
nssv14471398	Remapped	Perfect	NC_000016.10:g.(?_ 19934218)_(1995131 4_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	19,934,218	19,951,314
nssv14471479	Remapped	Perfect	NC_000016.10:g.(?_ 19934218)_(1995131 4_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	19,934,218	19,951,314
nssv14467636	Submitted genomic		NC_000016.9:g.(?_1 9945540)_(19962636 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	19,945,540	19,962,636
nssv14467696	Submitted genomic		NC_000016.9:g.(?_1 9945540)_(19962636 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	19,945,540	19,962,636
nssv14467859	Submitted genomic		NC_000016.9:g.(?_1 9945540)_(19962636 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	19,945,540	19,962,636
nssv14467910	Submitted genomic		NC_000016.9:g.(?_1 9945540)_(19962636 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	19,945,540	19,962,636
nssv14468338	Submitted genomic		NC_000016.9:g.(?_1 9945540)_(19962636 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	19,945,540	19,962,636
nssv14468537	Submitted genomic		NC_000016.9:g.(?_1 9945540)_(19962636 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	19,945,540	19,962,636
nssv14469051	Submitted genomic		NC_000016.9:g.(?_1 9945540)_(19962636 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	19,945,540	19,962,636
nssv14469225	Submitted genomic		NC_000016.9:g.(?_1 9945540)_(19962636 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	19,945,540	19,962,636
nssv14469265	Submitted genomic		NC_000016.9:g.(?_1 9945540)_(19962636 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	19,945,540	19,962,636
nssv14469276	Submitted genomic		NC_000016.9:g.(?_1 9945540)_(19962636 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	19,945,540	19,962,636
nssv14469289	Submitted genomic		NC_000016.9:g.(?_1 9945540)_(19962636 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	19,945,540	19,962,636
nssv14469297	Submitted genomic		NC_000016.9:g.(?_1 9945540)_(19962636 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	19,945,540	19,962,636
nssv14469582	Submitted genomic		NC_000016.9:g.(?_1 9945540)_(19962636 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	19,945,540	19,962,636
nssv14469811	Submitted genomic		NC_000016.9:g.(?_1 9945540)_(19962636 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	19,945,540	19,962,636
nssv14470733	Submitted genomic		NC_000016.9:g.(?_1 9945540)_(19962636 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	19,945,540	19,962,636
nssv14471260	Submitted genomic		NC_000016.9:g.(?_1 9945540)_(19962636 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	19,945,540	19,962,636
nssv14471299	Submitted genomic		NC_000016.9:g.(?_1 9945540)_(19962636 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	19,945,540	19,962,636
nssv14471398	Submitted genomic		NC_000016.9:g.(?_1 9945540)_(19962636 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	19,945,540	19,962,636
nssv14471479	Submitted genomic		NC_000016.9:g.(?_1 9945540)_(19962636 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	19,945,540	19,962,636

dbVar

Database of genomic structural variation

nsv3318308

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