A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv526312



Internal ID15453605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6839304..6839735hg38UCSC Ensembl
Innerchr12:6948468..6948899hg19UCSC Ensembl
Innerchr12:6818729..6819160hg18UCSC Ensembl
Innerchr12:6818729..6819160hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38432
hg19432
hg18432
hg17432
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv702596
Samples
Known GenesLEPREL2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv526312
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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