A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528147



Internal ID15108754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:57929747..58384450hg38UCSC Ensembl
Innerchr3:57915474..58370177hg19UCSC Ensembl
Innerchr3:57890514..58345217hg18UCSC Ensembl
Innerchr3:57890514..58345217hg17UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg38454704
hg19454704
hg18454704
hg17454704
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704694
Samples
Known GenesABHD6, DNASE1L3, FLNB, PXK, RPP14
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528147
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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