A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612774



Internal ID16053497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143489261..143606976hg38UCSC Ensembl
Innerchr8:144571431..144689146hg19UCSC Ensembl
Innerchr8:144642574..144760289hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38117716
hg19117716
hg18117716
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1125288
Samples
Known GenesEEF1D, GSDMD, MROH6, NAPRT1, PYCRL, TIGD5, ZC3H3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612774
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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