A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527241



Internal ID15107848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:65264668..65268149hg38UCSC Ensembl
Innerchr2:65491802..65495283hg19UCSC Ensembl
Innerchr2:65345306..65348787hg18UCSC Ensembl
Innerchr2:65403453..65406934hg17UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg383482
hg193482
hg183482
hg173482
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703643
Samples
Known GenesACTR2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527241
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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