A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv802726



Internal ID15749996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:113084969..113113365hg38UCSC Ensembl
Innerchr12:113522774..113551170hg19UCSC Ensembl
Innerchr12:112007157..112035553hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3828397
hg1928397
hg1828397
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560265
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)nssv802726
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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