A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702847



Internal ID15439499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:44934159..44985100hg38UCSC Ensembl
Innerchr2:45161298..45212239hg19UCSC Ensembl
Innerchr2:45014802..45065743hg18UCSC Ensembl
Innerchr2:45072949..45123890hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3850942
hg1950942
hg1850942
hg1750942
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv526534
Supporting Variants
Samples
Known GenesSIX3, SIX3-AS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702847
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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