A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695181



Internal ID15085147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19316144..19376134hg38UCSC Ensembl
Innerchr12:19469078..19529068hg19UCSC Ensembl
Innerchr12:19360345..19420335hg18UCSC Ensembl
Innerchr12:19360345..19420335hg17UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3859991
hg1959991
hg1859991
hg1759991
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)nssv695181
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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