A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv657038



Internal ID15047004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19210244..19389229hg38UCSC Ensembl
Innerchr12:19363178..19542163hg19UCSC Ensembl
Innerchr12:19254445..19433430hg18UCSC Ensembl
Innerchr12:19254445..19433430hg17UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38178986
hg19178986
hg18178986
hg17178986
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516362
Supporting Variants
Samples
Known GenesPLEKHA5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv657038
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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