A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv691509



Internal ID15428161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196853900..196968406hg38UCSC Ensembl
Innerchr1:196823030..196937536hg19UCSC Ensembl
Innerchr1:195089653..195204159hg18UCSC Ensembl
Innerchr1:193554687..193669193hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38114507
hg19114507
hg18114507
hg17114507
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517662
Supporting Variants
Samples
Known GenesCFHR2, CFHR4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv691509
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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