A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521956



Internal ID15102563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110634682..112341235hg38UCSC Ensembl
Innerchr2:111392259..113098812hg19UCSC Ensembl
Innerchr2:111108728..112815283hg18UCSC Ensembl
Innerchr2:111108488..112815043hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg381706554
hg191706554
hg181706556
hg171706556
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694725
Samples
Known GenesACOXL, ANAPC1, BCL2L11, BUB1, FBLN7, MERTK, MIR4435-1, MIR4435-1HG, MIR4435-2, MIR4771-1, MIR4771-2, TMEM87B, ZC3H6, ZC3H8
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521956
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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