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dbVar

Database of genomic structural variation

nsv3317197

Organism: Homo sapiens

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

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:7,569

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: 214 SVs from 35 studies. See in: genome view

Remapped(Score: Perfect):81,713,323-81,720,891

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3317197	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	81,713,323	81,720,891
nsv3317197	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	79,680,353	79,687,921

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14468101	copy number gain	M2129	SNP array	SNP genotyping analysis	38
nssv14468219	copy number gain	M2135	SNP array	SNP genotyping analysis	17
nssv14468257	copy number gain	M2136	SNP array	SNP genotyping analysis	54

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv14468101	Remapped	Perfect	NC_000017.11:g.(?_ 81713323)_(8172089 1_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	81,713,323	81,720,891
nssv14468219	Remapped	Perfect	NC_000017.11:g.(?_ 81713323)_(8172089 1_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	81,713,323	81,720,891
nssv14468257	Remapped	Perfect	NC_000017.11:g.(?_ 81713323)_(8172089 1_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	81,713,323	81,720,891
nssv14468101	Submitted genomic		NC_000017.10:g.(?_ 79680353)_(7968792 1_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	79,680,353	79,687,921
nssv14468219	Submitted genomic		NC_000017.10:g.(?_ 79680353)_(7968792 1_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	79,680,353	79,687,921
nssv14468257	Submitted genomic		NC_000017.10:g.(?_ 79680353)_(7968792 1_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	79,680,353	79,687,921

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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