A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612973



Internal ID16400382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144970446..145049322hg38UCSC Ensembl
Innerchr8:146195832..146274708hg19UCSC Ensembl
Innerchr8:146166636..146245512hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3878877
hg1978877
hg1878877
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12445n54
Supporting Variantsnssv1125836
Samples
Known GenesTMED10P1, ZNF252P, ZNF252P-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612973
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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