nsv3318690

Organism: Homo sapiens

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

Variant Calls:14
Validation:Not tested
Clinical Assertions: No
Region Size:11,133

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: 440 SVs from 62 studies. See in: genome view

Remapped(Score: Perfect):38,733,349-38,744,481

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3318690	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	38,733,349	38,744,481
nsv3318690	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	38,960,491	38,971,623

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14467704	copy number gain	M1336	SNP array	SNP genotyping analysis	19
nssv14468348	copy number gain	M2143	SNP array	SNP genotyping analysis	20
nssv14469014	copy number gain	M2195	SNP array	SNP genotyping analysis	19
nssv14469248	copy number gain	M2218	SNP array	SNP genotyping analysis	21
nssv14469300	copy number gain	M2222	SNP array	SNP genotyping analysis	9
nssv14469313	copy number gain	M2224	SNP array	SNP genotyping analysis	16
nssv14470084	copy number gain	M2306	SNP array	SNP genotyping analysis	19
nssv14470180	copy number gain	M2319	SNP array	SNP genotyping analysis	20
nssv14470638	copy number gain	M2363	SNP array	SNP genotyping analysis	22
nssv14471465	copy number gain	M2454	SNP array	SNP genotyping analysis	17
nssv14471638	copy number gain	M2468	SNP array	SNP genotyping analysis	15
nssv14471847	copy number gain	M2497	SNP array	SNP genotyping analysis	16
nssv14471913	copy number gain	M2505	SNP array	SNP genotyping analysis	15
nssv14471990	copy number gain	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
nssv14467704	Remapped	Perfect	NC_000002.12:g.(?_ 38733349)_(3874448 1_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	38,733,349	38,744,481
nssv14468348	Remapped	Perfect	NC_000002.12:g.(?_ 38733349)_(3874448 1_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	38,733,349	38,744,481
nssv14469014	Remapped	Perfect	NC_000002.12:g.(?_ 38733349)_(3874448 1_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	38,733,349	38,744,481
nssv14469248	Remapped	Perfect	NC_000002.12:g.(?_ 38733349)_(3874448 1_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	38,733,349	38,744,481
nssv14469300	Remapped	Perfect	NC_000002.12:g.(?_ 38733349)_(3874448 1_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	38,733,349	38,744,481
nssv14469313	Remapped	Perfect	NC_000002.12:g.(?_ 38733349)_(3874448 1_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	38,733,349	38,744,481
nssv14470084	Remapped	Perfect	NC_000002.12:g.(?_ 38733349)_(3874448 1_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	38,733,349	38,744,481
nssv14470180	Remapped	Perfect	NC_000002.12:g.(?_ 38733349)_(3874448 1_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	38,733,349	38,744,481
nssv14470638	Remapped	Perfect	NC_000002.12:g.(?_ 38733349)_(3874448 1_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	38,733,349	38,744,481
nssv14471465	Remapped	Perfect	NC_000002.12:g.(?_ 38733349)_(3874448 1_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	38,733,349	38,744,481
nssv14471638	Remapped	Perfect	NC_000002.12:g.(?_ 38733349)_(3874448 1_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	38,733,349	38,744,481
nssv14471847	Remapped	Perfect	NC_000002.12:g.(?_ 38733349)_(3874448 1_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	38,733,349	38,744,481
nssv14471913	Remapped	Perfect	NC_000002.12:g.(?_ 38733349)_(3874448 1_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	38,733,349	38,744,481
nssv14471990	Remapped	Perfect	NC_000002.12:g.(?_ 38733349)_(3874448 1_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	38,733,349	38,744,481
nssv14467704	Submitted genomic		NC_000002.11:g.(?_ 38960491)_(3897162 3_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	38,960,491	38,971,623
nssv14468348	Submitted genomic		NC_000002.11:g.(?_ 38960491)_(3897162 3_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	38,960,491	38,971,623
nssv14469014	Submitted genomic		NC_000002.11:g.(?_ 38960491)_(3897162 3_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	38,960,491	38,971,623
nssv14469248	Submitted genomic		NC_000002.11:g.(?_ 38960491)_(3897162 3_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	38,960,491	38,971,623
nssv14469300	Submitted genomic		NC_000002.11:g.(?_ 38960491)_(3897162 3_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	38,960,491	38,971,623
nssv14469313	Submitted genomic		NC_000002.11:g.(?_ 38960491)_(3897162 3_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	38,960,491	38,971,623
nssv14470084	Submitted genomic		NC_000002.11:g.(?_ 38960491)_(3897162 3_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	38,960,491	38,971,623
nssv14470180	Submitted genomic		NC_000002.11:g.(?_ 38960491)_(3897162 3_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	38,960,491	38,971,623
nssv14470638	Submitted genomic		NC_000002.11:g.(?_ 38960491)_(3897162 3_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	38,960,491	38,971,623
nssv14471465	Submitted genomic		NC_000002.11:g.(?_ 38960491)_(3897162 3_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	38,960,491	38,971,623
nssv14471638	Submitted genomic		NC_000002.11:g.(?_ 38960491)_(3897162 3_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	38,960,491	38,971,623
nssv14471847	Submitted genomic		NC_000002.11:g.(?_ 38960491)_(3897162 3_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	38,960,491	38,971,623
nssv14471913	Submitted genomic		NC_000002.11:g.(?_ 38960491)_(3897162 3_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	38,960,491	38,971,623
nssv14471990	Submitted genomic		NC_000002.11:g.(?_ 38960491)_(3897162 3_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	38,960,491	38,971,623

dbVar

Database of genomic structural variation

nsv3318690

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