A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519851



Internal ID15100458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:14768700..14768806hg38UCSC Ensembl
Innerchr12:14921634..14921740hg19UCSC Ensembl
Innerchr12:14812901..14813007hg18UCSC Ensembl
Innerchr12:14812901..14813007hg17UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38107
hg19107
hg18107
hg17107
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv659082, nssv676144, nssv680186
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519851
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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