A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv667118



Internal ID15403770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:14268178..14273158hg38UCSC Ensembl
Innerchr12:14421112..14426092hg19UCSC Ensembl
Innerchr12:14312379..14317359hg18UCSC Ensembl
Innerchr12:14312379..14317359hg17UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg384981
hg194981
hg184981
hg174981
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516257
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv667118
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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