A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1150756



Internal ID15509194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232340180..232438423hg38UCSC Ensembl
Innerchr2:233204890..233303133hg19UCSC Ensembl
Innerchr2:232913134..233011377hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3898244
hg1998244
hg1898244
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584681
Supporting Variants
Samples1798860047_A
Known GenesALPP, ALPPL2, DIS3L2, ECEL1P2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1150756
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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