A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv681662



Internal ID15418314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196853900..196925196hg38UCSC Ensembl
Innerchr1:196823030..196894326hg19UCSC Ensembl
Innerchr1:195089653..195160949hg18UCSC Ensembl
Innerchr1:193554687..193625983hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3871297
hg1971297
hg1871297
hg1771297
Variant TypeCNV gain
Copy Number
Allele State
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)nssv681662
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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