A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1150195



Internal ID15529890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:28513715..28546414hg38UCSC Ensembl
Innerchr2:28736582..28769281hg19UCSC Ensembl
Innerchr2:28590086..28622785hg18UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg3832700
hg1932700
hg1832700
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv581246
Supporting Variants
SamplesHGDP00863
Known GenesPLB1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1150195
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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