A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv692914



Internal ID15429566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131245772..131330389hg38UCSC Ensembl
Innerchr12:131730317..131814934hg19UCSC Ensembl
Innerchr12:130296270..130380887hg18UCSC Ensembl
Innerchr12:130255197..130339814hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3884618
hg1984618
hg1884618
hg1784618
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517271
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv692914
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer