A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv675192



Internal ID15411844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196868930..196968406hg38UCSC Ensembl
Innerchr1:196838060..196937536hg19UCSC Ensembl
Innerchr1:195104683..195204159hg18UCSC Ensembl
Innerchr1:193569717..193669193hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3899477
hg1999477
hg1899477
hg1799477
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517662
Supporting Variants
Samples
Known GenesCFHR2, CFHR4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv675192
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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