A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv656323



Internal ID15046289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11367487..11404725hg38UCSC Ensembl
Innerchr12:11520421..11557659hg19UCSC Ensembl
Innerchr12:11411688..11448926hg18UCSC Ensembl
Innerchr12:11411688..11448926hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3837239
hg1937239
hg1837239
hg1737239
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516262
Supporting Variants
Samples
Known GenesPRB2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv656323
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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