A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583440



Internal ID16370849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:158197203..158238673hg38UCSC Ensembl
Innerchr2:159053715..159095185hg19UCSC Ensembl
Innerchr2:158761961..158803431hg18UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3841471
hg1941471
hg1841471
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv922157
Samples
Known GenesCCDC148, CCDC148-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583440
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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