A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528016



Internal ID15108623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:242060097..242288048hg38UCSC Ensembl
Innerchr1:242223399..242451350hg19UCSC Ensembl
Innerchr1:240290022..240517973hg18UCSC Ensembl
Innerchr1:238549440..238777391hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38227952
hg19227952
hg18227952
hg17227952
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704544
Samples
Known GenesPLD5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528016
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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