A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv734032



Internal ID16027988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196805166..196928264hg38UCSC Ensembl
Innerchr1:196774296..196897394hg19UCSC Ensembl
Innerchr1:195040919..195164017hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38123099
hg19123099
hg18123099
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv548816
Supporting Variants
Samples
Known GenesCFHR1, CFHR4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv734032
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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