A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv703275



Internal ID15439927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:115200985..115204518hg38UCSC Ensembl
Innerchr12:115638790..115642323hg19UCSC Ensembl
Innerchr12:114123173..114126706hg18UCSC Ensembl
Innerchr12:114101510..114105043hg17UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg383534
hg193534
hg183534
hg173534
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv526914
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv703275
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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