A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv734002



Internal ID16027958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196787170..196831912hg38UCSC Ensembl
Innerchr1:196756300..196801042hg19UCSC Ensembl
Innerchr1:195022923..195067665hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3844743
hg1944743
hg1844743
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv548797
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)nssv734002
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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