A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv658360



Internal ID15395012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196853900..196927958hg38UCSC Ensembl
Innerchr1:196823030..196897088hg19UCSC Ensembl
Innerchr1:195089653..195163711hg18UCSC Ensembl
Innerchr1:193554687..193628745hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3874059
hg1974059
hg1874059
hg1774059
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517662
Supporting Variants
Samples
Known GenesCFHR4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv658360
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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