A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581472



Internal ID16368881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:37008181..37064177hg38UCSC Ensembl
Innerchr2:37235324..37291320hg19UCSC Ensembl
Innerchr2:37088828..37144824hg18UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg3855997
hg1955997
hg1855997
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv906862
Samples
Known GenesHEATR5B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581472
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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