A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705186



Internal ID15441838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:126191119..126195800hg38UCSC Ensembl
Innerchr12:126675665..126680346hg19UCSC Ensembl
Innerchr12:125241618..125246299hg18UCSC Ensembl
Innerchr12:125200545..125205226hg17UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg384682
hg194682
hg184682
hg174682
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528567
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705186
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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