A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612695



Internal ID16400104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:142306929..142348262hg38UCSC Ensembl
Innerchr8:143388290..143429623hg19UCSC Ensembl
Innerchr8:143386197..143427530hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3841334
hg1941334
hg1841334
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1124913
Samples
Known GenesTSNARE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612695
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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