A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515742



Internal ID15096349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:104669476..104670104hg38UCSC Ensembl
Innerchr12:105063254..105063882hg19UCSC Ensembl
Innerchr12:103587384..103588012hg18UCSC Ensembl
Innerchr12:103565721..103566349hg17UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38629
hg19629
hg18629
hg17629
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv692483, nssv664646
Samples
Known GenesCHST11
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515742
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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