A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580972



Internal ID16021695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:11668528..11713886hg38UCSC Ensembl
Innerchr2:11808654..11854012hg19UCSC Ensembl
Innerchr2:11726105..11771463hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3845359
hg1945359
hg1845359
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150393
SamplesHGDP01072
Known GenesLPIN1, NTSR2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580972
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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