A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612147



Internal ID16399556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:124720879..124738823hg38UCSC Ensembl
Innerchr8:125733120..125751065hg19UCSC Ensembl
Innerchr8:125802301..125820246hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3817945
hg1917946
hg1817946
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1120525
Samples
Known GenesMTSS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612147
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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