A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612234



Internal ID16052957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:130026863..130318766hg38UCSC Ensembl
Innerchr8:131039109..131331012hg19UCSC Ensembl
Innerchr8:131108291..131400194hg18UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38291904
hg19291904
hg18291904
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1156638
Samples1780862212_A
Known GenesASAP1, ASAP1-IT1, ASAP1-IT2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612234
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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