A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467672



Internal ID15527737
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv57n27
Supporting Variantsnssv542884
Samples1780854017_A
Known GenesCFHR4
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)nsv467672
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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