A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612822



Internal ID16053545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143596704..143604342hg38UCSC Ensembl
Innerchr8:144678874..144686512hg19UCSC Ensembl
Innerchr8:144750017..144757655hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg387639
hg197639
hg187639
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1125499
Samples
Known GenesEEF1D, PYCRL, TIGD5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612822
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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