A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612232



Internal ID16399641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:129951013..130106412hg38UCSC Ensembl
Innerchr8:130963259..131118658hg19UCSC Ensembl
Innerchr8:131032441..131187840hg18UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38155400
hg19155400
hg18155400
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1156637
SamplesHGDP01097
Known GenesASAP1, ASAP1-IT2, FAM49B, MIR5194
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612232
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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