A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612817



Internal ID16400226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143581491..143640022hg38UCSC Ensembl
Innerchr8:144663661..144722192hg19UCSC Ensembl
Innerchr8:144734804..144793335hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3858532
hg1958532
hg1858532
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12419n54
Supporting Variantsnssv1156662
SamplesNINDS_50
Known GenesEEF1D, PYCRL, TIGD5, TSTA3, ZNF623
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612817
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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