A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460015



Internal ID15173394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:197284043..197367915hg38UCSC Ensembl
Innerchr2:198148767..198232639hg19UCSC Ensembl
Innerchr2:197857012..197940884hg18UCSC Ensembl
Innerchr2:197974273..198058145hg17UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3883873
hg1983873
hg1883873
hg1783873
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536643
Samples1780854205_A
Known GenesANKRD44
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)nsv460015
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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