A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581299



Internal ID16022022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32999877..33001303hg38UCSC Ensembl
Innerchr2:33224944..33226370hg19UCSC Ensembl
Innerchr2:33078448..33079874hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg381427
hg191427
hg181427
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6751n54
Supporting Variantsnssv904876, nssv904879, nssv904877, nssv904875, nssv904880, nssv904873, nssv904872, nssv904881, nssv904878, nssv904874
Samples
Known GenesLTBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581299
Frequency
Sample Size17421
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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