A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv803393



Internal ID15750663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:120095892..120238287hg38UCSC Ensembl
Innerchr12:120533696..120676090hg19UCSC Ensembl
Innerchr12:119018079..119160473hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg38142396
hg19142395
hg18142395
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560433
Supporting Variants
Samples
Known GenesGCN1L1, MIR4498, PXN, PXN-AS1, RAB35, RPLP0
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv803393
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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