A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1151189



Internal ID15530675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240423252..240470039hg38UCSC Ensembl
Innerchr2:241362669..241409456hg19UCSC Ensembl
Innerchr2:241011342..241058129hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3846788
hg1946788
hg1846788
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584808
Supporting Variants
SamplesHGDP00974
Known GenesGPC1, MIR149, PP14571
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1151189
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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