A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581174



Internal ID16021897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:23383306..23386905hg38UCSC Ensembl
Innerchr2:23606177..23609776hg19UCSC Ensembl
Innerchr2:23459682..23463281hg18UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg383600
hg193600
hg183600
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6732n54
Supporting Variantsnssv904432
Samples
Known GenesKLHL29
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581174
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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