A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528460



Internal ID8422735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196573437..197477572hg38UCSC Ensembl
Innerchr1:196542567..197446702hg19UCSC Ensembl
Innerchr1:194809190..195713325hg18UCSC Ensembl
Innerchr1:193274224..194178359hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38904136
hg19904136
hg18904136
hg17904136
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv705062
Samples
Known GenesASPM, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CRB1, F13B, KCNT2, MIR4735, ZBTB41
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528460
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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