A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1150427



Internal ID15532403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:44276990..44339733hg38UCSC Ensembl
Innerchr2:44504129..44566872hg19UCSC Ensembl
Innerchr2:44357633..44420376hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3862744
hg1962744
hg1862744
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv581691
Supporting Variants
SamplesHGDP01306
Known GenesPREPL, SLC3A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1150427
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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