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dbVar

Database of genomic structural variation

nsv3063414

Organism: Homo sapiens

Study:nstd140 (Fan et al. 2017)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38 (hg38)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:8,488

Publication(s):Fan et al. 2017

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: 495 SVs from 81 studies. See in: genome view

Submitted genomic172,503,882-172,512,369

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3063414	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	172,503,882	172,512,369
nsv3063414	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	173,425,033	173,433,520

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14035398	deletion	NA12878	Sequencing	Local sequence assembly	15,093

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14035398	Submitted genomic		NC_000004.12:g.172 503882_172512369de l	GRCh38 (hg38)		NC_000004.12	Chr4	172,503,882	172,512,369
nssv14035398	Remapped	Perfect	NC_000004.11:g.173 425033_173433520de l	GRCh37.p13	First Pass	NC_000004.11	Chr4	173,425,033	173,433,520

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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