A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525683



Internal ID15106290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:33579088..33579290hg38UCSC Ensembl
Innerchr5:33579193..33579395hg19UCSC Ensembl
Innerchr5:33614950..33615152hg18UCSC Ensembl
Innerchr5:33614950..33615152hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38203
hg19203
hg18203
hg17203
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv701841
Samples
Known GenesADAMTS12
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv525683
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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