A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522841



Internal ID15103448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:202150606..202311878hg38UCSC Ensembl
Innerchr1:202119734..202281006hg19UCSC Ensembl
Innerchr1:200386357..200547629hg18UCSC Ensembl
Innerchr1:198851391..199012663hg17UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38161273
hg19161273
hg18161273
hg17161273
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698493
Samples
Known GenesLGR6, PTPN7, PTPRVP
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522841
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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