A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612975



Internal ID16400384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144977000..145049322hg38UCSC Ensembl
Innerchr8:146202386..146274708hg19UCSC Ensembl
Innerchr8:146173190..146245512hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3872323
hg1972323
hg1872323
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12445n54
Supporting Variantsnssv1156392
Samples1780862275_A
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)nsv612975
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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