A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523292



Internal ID15103899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:95992360..96015423hg38UCSC Ensembl
Innerchr12:96386138..96409201hg19UCSC Ensembl
Innerchr12:94910269..94933332hg18UCSC Ensembl
Innerchr12:94888606..94911669hg17UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3823064
hg1923064
hg1823064
hg1723064
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699032
Samples
Known GenesHAL, LTA4H
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523292
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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