A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv693566



Internal ID15083532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:965716..968910hg38UCSC Ensembl
Innerchr12:1074882..1078076hg19UCSC Ensembl
Innerchr12:945143..948337hg18UCSC Ensembl
Innerchr12:945143..948337hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg383195
hg193195
hg183195
hg173195
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516003
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv693566
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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