A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv663665



Internal ID15053631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11341087..11404725hg38UCSC Ensembl
Innerchr12:11494021..11557659hg19UCSC Ensembl
Innerchr12:11385288..11448926hg18UCSC Ensembl
Innerchr12:11385288..11448926hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3863639
hg1963639
hg1863639
hg1763639
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516262
Supporting Variants
Samples
Known GenesPRB1, PRB2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv663665
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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