A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581476



Internal ID16368885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:38086798..38160085hg38UCSC Ensembl
Innerchr2:38313940..38387227hg19UCSC Ensembl
Innerchr2:38167444..38240731hg18UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg3873288
hg1973288
hg1873288
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv906865
Samples
Known GenesCYP1B1-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581476
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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