A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705276



Internal ID15441928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:69171131..69175065hg38UCSC Ensembl
Innerchr2:69398263..69402197hg19UCSC Ensembl
Innerchr2:69251767..69255701hg18UCSC Ensembl
Innerchr2:69309914..69313848hg17UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg383935
hg193935
hg183935
hg173935
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528644
Supporting Variants
Samples
Known GenesANTXR1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705276
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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