A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612779



Internal ID16053502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143549816..143611897hg38UCSC Ensembl
Innerchr8:144631986..144694067hg19UCSC Ensembl
Innerchr8:144703129..144765210hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3862082
hg1962082
hg1862082
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12410n54
Supporting Variantsnssv1125293
Samples
Known GenesEEF1D, GSDMD, MROH6, NAPRT1, PYCRL, TIGD5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612779
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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