Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv3050786

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:7,484

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: 576 SVs from 67 studies. See in: genome view

Submitted genomic40,972,449-40,979,932

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3050786	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000009.12	Chr9	40,972,449	40,979,932
nsv3050786	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000009.11	Chr9	69,045,678	69,053,161

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14032209	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
nssv14032209	Submitted genomic		NC_000009.12:g.409 72449_40979932del	GRCh38 (hg38)		NC_000009.12	Chr9	40,972,449	40,979,932
nssv14032209	Remapped	Perfect	NC_000009.11:g.690 45678_69053161del	GRCh37.p13	First Pass	NC_000009.11	Chr9	69,045,678	69,053,161

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

You are here: NCBI