A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519540



Internal ID15100147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:113042705..113459599hg38UCSC Ensembl
Innerchr12:113480510..113897404hg19UCSC Ensembl
Innerchr12:111964893..112381787hg18UCSC Ensembl
Innerchr12:111943230..112360124hg17UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38416895
hg19416895
hg18416895
hg17416895
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696607, nssv676844, nssv656774
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)nsv519540
Frequency
Sample Size2026
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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