A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv686082



Internal ID15422734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11867005..11871007hg38UCSC Ensembl
Innerchr12:12019939..12023941hg19UCSC Ensembl
Innerchr12:11911206..11915208hg18UCSC Ensembl
Innerchr12:11911206..11915208hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg384003
hg194003
hg184003
hg174003
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516796
Supporting Variants
Samples
Known GenesETV6, RNU6-19P
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv686082
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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