A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523208



Internal ID15103815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:158052427..158118897hg38UCSC Ensembl
Innerchr1:158022217..158088687hg19UCSC Ensembl
Innerchr1:156288841..156355311hg18UCSC Ensembl
Innerchr1:154835290..154901760hg17UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg3866471
hg1966471
hg1866471
hg1766471
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698928
Samples
Known GenesKIRREL
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523208
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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