A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv703469



Internal ID15093435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:3131129..3146196hg38UCSC Ensembl
Innerchr12:3240295..3255362hg19UCSC Ensembl
Innerchr12:3110556..3125623hg18UCSC Ensembl
Innerchr12:3110556..3125623hg17UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3815068
hg1915068
hg1815068
hg1715068
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527090
Supporting Variants
Samples
Known GenesTSPAN9
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv703469
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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