A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv734048



Internal ID16028004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196818614..196890118hg38UCSC Ensembl
Innerchr1:196787744..196859248hg19UCSC Ensembl
Innerchr1:195054367..195125871hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3871505
hg1971505
hg1871505
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv548830
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)nssv734048
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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