A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581176



Internal ID16021899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:23385184..23387012hg38UCSC Ensembl
Innerchr2:23608055..23609883hg19UCSC Ensembl
Innerchr2:23461560..23463388hg18UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg381829
hg191829
hg181829
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv904435, nssv904434
Samples
Known GenesKLHL29
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581176
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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