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dbVar

Database of genomic structural variation

nsv3049752

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:10,546

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: 216 SVs from 48 studies. See in: genome view

Submitted genomic151,598,084-151,608,629

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3049752	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	151,598,084	151,608,629
nsv3049752	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	152,454,598	152,465,143

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14020503	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
nssv14020503	Submitted genomic		NC_000002.12:g.151 598084_151608629de l	GRCh38 (hg38)		NC_000002.12	Chr2	151,598,084	151,608,629
nssv14020503	Remapped	Perfect	NC_000002.11:g.152 454598_152465143de l	GRCh37.p13	First Pass	NC_000002.11	Chr2	152,454,598	152,465,143

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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