A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv802725



Internal ID15749995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:113050137..113136469hg38UCSC Ensembl
Innerchr12:113487942..113574274hg19UCSC Ensembl
Innerchr12:111972325..112058657hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3886333
hg1986333
hg1886333
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560264
Supporting Variants
Samples
Known GenesDTX1, RASAL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv802725
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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