A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv676844



Internal ID15066810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:113050137..113453746hg38UCSC Ensembl
Innerchr12:113487942..113891551hg19UCSC Ensembl
Innerchr12:111972325..112375934hg18UCSC Ensembl
Innerchr12:111950662..112354271hg17UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38403610
hg19403610
hg18403610
hg17403610
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519540
Supporting Variants
Samples
Known GenesC12orf52, CCDC42B, DDX54, DTX1, IQCD, MIR6762, MIR7106, PLBD2, RASAL1, SDS, SDSL, SLC8B1, TPCN1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv676844
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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