A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517249



Internal ID15097856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:128817173..129006649hg38UCSC Ensembl
Innerchr4:129738328..129927804hg19UCSC Ensembl
Innerchr4:129957778..130147254hg18UCSC Ensembl
Innerchr4:130095933..130285409hg17UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg38189477
hg19189477
hg18189477
hg17189477
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv684082, nssv676828, nssv666372, nssv654121
Samples
Known GenesJADE1, SCLT1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517249
Frequency
Sample Size2026
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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