A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527823



Internal ID15108430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:47418110..47482565hg38UCSC Ensembl
Innerchr2:47645249..47709704hg19UCSC Ensembl
Innerchr2:47498753..47563208hg18UCSC Ensembl
Innerchr2:47556900..47621355hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3864456
hg1964456
hg1864456
hg1764456
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704318
Samples
Known GenesMSH2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527823
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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