A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv666372



Internal ID15403024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:128853220..129006649hg38UCSC Ensembl
Innerchr4:129774375..129927804hg19UCSC Ensembl
Innerchr4:129993825..130147254hg18UCSC Ensembl
Innerchr4:130131980..130285409hg17UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg38153430
hg19153430
hg18153430
hg17153430
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)nssv666372
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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