A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516920



Internal ID15097527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111360749..111362779hg38UCSC Ensembl
Innerchr12:111798553..111800583hg19UCSC Ensembl
Innerchr12:110282936..110284966hg18UCSC Ensembl
Innerchr12:110261273..110263303hg17UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg382031
hg192031
hg182031
hg172031
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv654989, nssv656998, nssv674628
Samples
Known GenesFAM109A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516920
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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