A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699680



Internal ID15436332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30553417..30554257hg38UCSC Ensembl
Innerchr12:30706350..30707190hg19UCSC Ensembl
Innerchr12:30597617..30598457hg18UCSC Ensembl
Innerchr12:30597617..30598457hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38841
hg19841
hg18841
hg17841
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523846
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699680
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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