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dbVar

Database of genomic structural variation

nsv3317638

Organism: Homo sapiens

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

Variant Calls:9
Validation:Not tested
Clinical Assertions: No
Region Size:19,601

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: 481 SVs from 69 studies. See in: genome view

Remapped(Score: Perfect):54,689,126-54,708,726

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3317638	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	54,689,126	54,708,726
nsv3317638	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	56,448,886	56,468,486

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14468573	copy number gain	M2166	SNP array	SNP genotyping analysis	16
nssv14468649	copy number gain	M2174	SNP array	SNP genotyping analysis	19
nssv14468865	copy number gain	M2187	SNP array	SNP genotyping analysis	20
nssv14469043	copy number gain	M2197	SNP array	SNP genotyping analysis	20
nssv14469236	copy number gain	M2218	SNP array	SNP genotyping analysis	21
nssv14469528	copy number gain	M2247	SNP array	SNP genotyping analysis	20
nssv14470007	copy number gain	M2297	SNP array	SNP genotyping analysis	19
nssv14470266	copy number gain	M2324	SNP array	SNP genotyping analysis	19
nssv14471813	copy number gain	M2496	SNP array	SNP genotyping analysis	22

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv14468573	Remapped	Perfect	NC_000010.11:g.(?_ 54689126)_(5470872 6_?)dup	GRCh38.p12	First Pass	NC_000010.11	Chr10	54,689,126	54,708,726
nssv14468649	Remapped	Perfect	NC_000010.11:g.(?_ 54689126)_(5470872 6_?)dup	GRCh38.p12	First Pass	NC_000010.11	Chr10	54,689,126	54,708,726
nssv14468865	Remapped	Perfect	NC_000010.11:g.(?_ 54689126)_(5470872 6_?)dup	GRCh38.p12	First Pass	NC_000010.11	Chr10	54,689,126	54,708,726
nssv14469043	Remapped	Perfect	NC_000010.11:g.(?_ 54689126)_(5470872 6_?)dup	GRCh38.p12	First Pass	NC_000010.11	Chr10	54,689,126	54,708,726
nssv14469236	Remapped	Perfect	NC_000010.11:g.(?_ 54689126)_(5470872 6_?)dup	GRCh38.p12	First Pass	NC_000010.11	Chr10	54,689,126	54,708,726
nssv14469528	Remapped	Perfect	NC_000010.11:g.(?_ 54689126)_(5470872 6_?)dup	GRCh38.p12	First Pass	NC_000010.11	Chr10	54,689,126	54,708,726
nssv14470007	Remapped	Perfect	NC_000010.11:g.(?_ 54689126)_(5470872 6_?)dup	GRCh38.p12	First Pass	NC_000010.11	Chr10	54,689,126	54,708,726
nssv14470266	Remapped	Perfect	NC_000010.11:g.(?_ 54689126)_(5470872 6_?)dup	GRCh38.p12	First Pass	NC_000010.11	Chr10	54,689,126	54,708,726
nssv14471813	Remapped	Perfect	NC_000010.11:g.(?_ 54689126)_(5470872 6_?)dup	GRCh38.p12	First Pass	NC_000010.11	Chr10	54,689,126	54,708,726
nssv14468573	Submitted genomic		NC_000010.10:g.(?_ 56448886)_(5646848 6_?)dup	GRCh37 (hg19)		NC_000010.10	Chr10	56,448,886	56,468,486
nssv14468649	Submitted genomic		NC_000010.10:g.(?_ 56448886)_(5646848 6_?)dup	GRCh37 (hg19)		NC_000010.10	Chr10	56,448,886	56,468,486
nssv14468865	Submitted genomic		NC_000010.10:g.(?_ 56448886)_(5646848 6_?)dup	GRCh37 (hg19)		NC_000010.10	Chr10	56,448,886	56,468,486
nssv14469043	Submitted genomic		NC_000010.10:g.(?_ 56448886)_(5646848 6_?)dup	GRCh37 (hg19)		NC_000010.10	Chr10	56,448,886	56,468,486
nssv14469236	Submitted genomic		NC_000010.10:g.(?_ 56448886)_(5646848 6_?)dup	GRCh37 (hg19)		NC_000010.10	Chr10	56,448,886	56,468,486
nssv14469528	Submitted genomic		NC_000010.10:g.(?_ 56448886)_(5646848 6_?)dup	GRCh37 (hg19)		NC_000010.10	Chr10	56,448,886	56,468,486
nssv14470007	Submitted genomic		NC_000010.10:g.(?_ 56448886)_(5646848 6_?)dup	GRCh37 (hg19)		NC_000010.10	Chr10	56,448,886	56,468,486
nssv14470266	Submitted genomic		NC_000010.10:g.(?_ 56448886)_(5646848 6_?)dup	GRCh37 (hg19)		NC_000010.10	Chr10	56,448,886	56,468,486
nssv14471813	Submitted genomic		NC_000010.10:g.(?_ 56448886)_(5646848 6_?)dup	GRCh37 (hg19)		NC_000010.10	Chr10	56,448,886	56,468,486

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

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