A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv664802



Internal ID15054768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19316144..19437874hg38UCSC Ensembl
Innerchr12:19469078..19590808hg19UCSC Ensembl
Innerchr12:19360345..19482075hg18UCSC Ensembl
Innerchr12:19360345..19482075hg17UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38121731
hg19121731
hg18121731
hg17121731
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)nssv664802
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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