A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1150757



Internal ID15530701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232341294..232429063hg38UCSC Ensembl
Innerchr2:233206004..233293773hg19UCSC Ensembl
Innerchr2:232914248..233002017hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3887770
hg1987770
hg1887770
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584684
Supporting Variants
SamplesHGDP00977
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)nssv1150757
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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