A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv684082



Internal ID15074048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:128817173..129003697hg38UCSC Ensembl
Innerchr4:129738328..129924852hg19UCSC Ensembl
Innerchr4:129957778..130144302hg18UCSC Ensembl
Innerchr4:130095933..130282457hg17UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg38186525
hg19186525
hg18186525
hg17186525
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517249
Supporting Variants
Samples
Known GenesJADE1, SCLT1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv684082
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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