A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv691309



Internal ID15081275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:1625192..1648888hg38UCSC Ensembl
Innerchr2:1628964..1652660hg19UCSC Ensembl
Innerchr2:1607971..1631667hg18UCSC Ensembl
Innerchr2:1599261..1622957hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3823697
hg1923697
hg1823697
hg1723697
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521199
Supporting Variants
Samples
Known GenesPXDN
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv691309
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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