A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612897



Internal ID16053620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143812326..143900795hg38UCSC Ensembl
Innerchr8:144894496..144974963hg19UCSC Ensembl
Innerchr8:144966484..145046951hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3888470
hg1980468
hg1880468
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1156384
Samples1780862347_A
Known GenesEPPK1, MIR6845, MIR937, NRBP2, PUF60, SCRIB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612897
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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