A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695543



Internal ID15085509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8463213..8518678hg38UCSC Ensembl
Innerchr12:8615809..8671274hg19UCSC Ensembl
Innerchr12:8507076..8562541hg18UCSC Ensembl
Innerchr12:8507076..8562541hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3855466
hg1955466
hg1855466
hg1755466
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518125
Supporting Variants
Samples
Known GenesCLEC4D, CLEC6A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695543
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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