A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542996



Internal ID15509599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196853900..196964115hg38UCSC Ensembl
Innerchr1:196823030..196933245hg19UCSC Ensembl
Innerchr1:195089653..195199868hg18UCSC Ensembl
Innerchr1:193554687..193664902hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38110216
hg19110216
hg18110216
hg17110216
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467850
Supporting Variants
SamplesHGDP01041
Known GenesCFHR2, CFHR4
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv542996
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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