A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv733987



Internal ID16027943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196774797..196878339hg38UCSC Ensembl
Innerchr1:196743927..196847469hg19UCSC Ensembl
Innerchr1:195010550..195114092hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38103543
hg19103543
hg18103543
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv548784
Supporting Variants
Samples
Known GenesCFHR1, CFHR3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv733987
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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