nsv3317836

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:8,466

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: 626 SVs from 70 studies. See in: genome view

Remapped(Score: Perfect):69,541,570-69,550,035

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3317836	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	69,541,570	69,550,035
nsv3317836	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	67,208,806	67,217,271

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14467874	copy number loss	M2114	SNP array	SNP genotyping analysis	15
nssv14467928	copy number loss	M2117	SNP array	SNP genotyping analysis	13
nssv14468135	copy number loss	M2130	SNP array	SNP genotyping analysis	26
nssv14468480	copy number loss	M2158	SNP array	SNP genotyping analysis	19
nssv14468595	copy number loss	M2167	SNP array	SNP genotyping analysis	21
nssv14469229	copy number loss	M2217	SNP array	SNP genotyping analysis	18
nssv14469291	copy number loss	M2221	SNP array	SNP genotyping analysis	11
nssv14469538	copy number loss	M2247	SNP array	SNP genotyping analysis	20
nssv14469584	copy number loss	M2250	SNP array	SNP genotyping analysis	15
nssv14469794	copy number loss	M2269	SNP array	SNP genotyping analysis	19
nssv14469995	copy number loss	M2296	SNP array	SNP genotyping analysis	15
nssv14470113	copy number loss	M2309	SNP array	SNP genotyping analysis	18
nssv14470164	copy number loss	M2318	SNP array	SNP genotyping analysis	12
nssv14470306	copy number loss	M2327	SNP array	SNP genotyping analysis	17
nssv14470698	copy number loss	M2370	SNP array	SNP genotyping analysis	18
nssv14471173	copy number loss	M2420	SNP array	SNP genotyping analysis	24
nssv14471753	copy number loss	M2488	SNP array	SNP genotyping analysis	18
nssv14471894	copy number loss	M2502	SNP array	SNP genotyping analysis	16
nssv14471987	copy number loss	M2513	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
nssv14467874	Remapped	Perfect	NC_000018.10:g.(?_ 69541570)_(6955003 5_?)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	69,541,570	69,550,035
nssv14467928	Remapped	Perfect	NC_000018.10:g.(?_ 69541570)_(6955003 5_?)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	69,541,570	69,550,035
nssv14468135	Remapped	Perfect	NC_000018.10:g.(?_ 69541570)_(6955003 5_?)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	69,541,570	69,550,035
nssv14468480	Remapped	Perfect	NC_000018.10:g.(?_ 69541570)_(6955003 5_?)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	69,541,570	69,550,035
nssv14468595	Remapped	Perfect	NC_000018.10:g.(?_ 69541570)_(6955003 5_?)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	69,541,570	69,550,035
nssv14469229	Remapped	Perfect	NC_000018.10:g.(?_ 69541570)_(6955003 5_?)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	69,541,570	69,550,035
nssv14469291	Remapped	Perfect	NC_000018.10:g.(?_ 69541570)_(6955003 5_?)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	69,541,570	69,550,035
nssv14469538	Remapped	Perfect	NC_000018.10:g.(?_ 69541570)_(6955003 5_?)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	69,541,570	69,550,035
nssv14469584	Remapped	Perfect	NC_000018.10:g.(?_ 69541570)_(6955003 5_?)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	69,541,570	69,550,035
nssv14469794	Remapped	Perfect	NC_000018.10:g.(?_ 69541570)_(6955003 5_?)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	69,541,570	69,550,035
nssv14469995	Remapped	Perfect	NC_000018.10:g.(?_ 69541570)_(6955003 5_?)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	69,541,570	69,550,035
nssv14470113	Remapped	Perfect	NC_000018.10:g.(?_ 69541570)_(6955003 5_?)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	69,541,570	69,550,035
nssv14470164	Remapped	Perfect	NC_000018.10:g.(?_ 69541570)_(6955003 5_?)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	69,541,570	69,550,035
nssv14470306	Remapped	Perfect	NC_000018.10:g.(?_ 69541570)_(6955003 5_?)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	69,541,570	69,550,035
nssv14470698	Remapped	Perfect	NC_000018.10:g.(?_ 69541570)_(6955003 5_?)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	69,541,570	69,550,035
nssv14471173	Remapped	Perfect	NC_000018.10:g.(?_ 69541570)_(6955003 5_?)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	69,541,570	69,550,035
nssv14471753	Remapped	Perfect	NC_000018.10:g.(?_ 69541570)_(6955003 5_?)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	69,541,570	69,550,035
nssv14471894	Remapped	Perfect	NC_000018.10:g.(?_ 69541570)_(6955003 5_?)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	69,541,570	69,550,035
nssv14471987	Remapped	Perfect	NC_000018.10:g.(?_ 69541570)_(6955003 5_?)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	69,541,570	69,550,035
nssv14467874	Submitted genomic		NC_000018.9:g.(?_6 7208806)_(67217271 _?)del	GRCh37 (hg19)		NC_000018.9	Chr18	67,208,806	67,217,271
nssv14467928	Submitted genomic		NC_000018.9:g.(?_6 7208806)_(67217271 _?)del	GRCh37 (hg19)		NC_000018.9	Chr18	67,208,806	67,217,271
nssv14468135	Submitted genomic		NC_000018.9:g.(?_6 7208806)_(67217271 _?)del	GRCh37 (hg19)		NC_000018.9	Chr18	67,208,806	67,217,271
nssv14468480	Submitted genomic		NC_000018.9:g.(?_6 7208806)_(67217271 _?)del	GRCh37 (hg19)		NC_000018.9	Chr18	67,208,806	67,217,271
nssv14468595	Submitted genomic		NC_000018.9:g.(?_6 7208806)_(67217271 _?)del	GRCh37 (hg19)		NC_000018.9	Chr18	67,208,806	67,217,271
nssv14469229	Submitted genomic		NC_000018.9:g.(?_6 7208806)_(67217271 _?)del	GRCh37 (hg19)		NC_000018.9	Chr18	67,208,806	67,217,271
nssv14469291	Submitted genomic		NC_000018.9:g.(?_6 7208806)_(67217271 _?)del	GRCh37 (hg19)		NC_000018.9	Chr18	67,208,806	67,217,271
nssv14469538	Submitted genomic		NC_000018.9:g.(?_6 7208806)_(67217271 _?)del	GRCh37 (hg19)		NC_000018.9	Chr18	67,208,806	67,217,271
nssv14469584	Submitted genomic		NC_000018.9:g.(?_6 7208806)_(67217271 _?)del	GRCh37 (hg19)		NC_000018.9	Chr18	67,208,806	67,217,271
nssv14469794	Submitted genomic		NC_000018.9:g.(?_6 7208806)_(67217271 _?)del	GRCh37 (hg19)		NC_000018.9	Chr18	67,208,806	67,217,271
nssv14469995	Submitted genomic		NC_000018.9:g.(?_6 7208806)_(67217271 _?)del	GRCh37 (hg19)		NC_000018.9	Chr18	67,208,806	67,217,271
nssv14470113	Submitted genomic		NC_000018.9:g.(?_6 7208806)_(67217271 _?)del	GRCh37 (hg19)		NC_000018.9	Chr18	67,208,806	67,217,271
nssv14470164	Submitted genomic		NC_000018.9:g.(?_6 7208806)_(67217271 _?)del	GRCh37 (hg19)		NC_000018.9	Chr18	67,208,806	67,217,271
nssv14470306	Submitted genomic		NC_000018.9:g.(?_6 7208806)_(67217271 _?)del	GRCh37 (hg19)		NC_000018.9	Chr18	67,208,806	67,217,271
nssv14470698	Submitted genomic		NC_000018.9:g.(?_6 7208806)_(67217271 _?)del	GRCh37 (hg19)		NC_000018.9	Chr18	67,208,806	67,217,271
nssv14471173	Submitted genomic		NC_000018.9:g.(?_6 7208806)_(67217271 _?)del	GRCh37 (hg19)		NC_000018.9	Chr18	67,208,806	67,217,271
nssv14471753	Submitted genomic		NC_000018.9:g.(?_6 7208806)_(67217271 _?)del	GRCh37 (hg19)		NC_000018.9	Chr18	67,208,806	67,217,271
nssv14471894	Submitted genomic		NC_000018.9:g.(?_6 7208806)_(67217271 _?)del	GRCh37 (hg19)		NC_000018.9	Chr18	67,208,806	67,217,271
nssv14471987	Submitted genomic		NC_000018.9:g.(?_6 7208806)_(67217271 _?)del	GRCh37 (hg19)		NC_000018.9	Chr18	67,208,806	67,217,271

dbVar

Database of genomic structural variation

nsv3317836

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