A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583148



Internal ID16370557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:132199667..132277818hg38UCSC Ensembl
Innerchr2:132957240..133035391hg19UCSC Ensembl
Innerchr2:132673710..132751861hg18UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3878152
hg1978152
hg1878152
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv920067
Samples
Known GenesANKRD30BL, MIR663B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583148
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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