A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv690310



Internal ID15426962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:4243071..4246844hg38UCSC Ensembl
Innerchr2:4290661..4294434hg19UCSC Ensembl
Innerchr2:4268536..4272309hg18UCSC Ensembl
Innerchr2:3784030..3787803hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg383774
hg193774
hg183774
hg173774
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517222
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv690310
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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