A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583244



Internal ID16023967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:143170113..143238941hg38UCSC Ensembl
Innerchr2:143927682..143996510hg19UCSC Ensembl
Innerchr2:143644152..143712980hg18UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg3868829
hg1968829
hg1868829
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv920277
Samples
Known GenesARHGAP15
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583244
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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