A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581268



Internal ID16021991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:31202917..31244213hg38UCSC Ensembl
Innerchr2:31425783..31467079hg19UCSC Ensembl
Innerchr2:31279287..31320583hg18UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg3841297
hg1941297
hg1841297
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv904624, nssv904625
Samples
Known GenesCAPN14, EHD3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581268
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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