A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519030



Internal ID15446323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:125167151..125171856hg38UCSC Ensembl
Innerchr12:125651697..125656402hg19UCSC Ensembl
Innerchr12:124217650..124222355hg18UCSC Ensembl
Innerchr12:124176577..124181282hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg384706
hg194706
hg184706
hg174706
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696499
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519030
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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