A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536720



Internal ID15504464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:217352895..217509343hg38UCSC Ensembl
Innerchr2:218217618..218374066hg19UCSC Ensembl
Innerchr2:217925863..218082311hg18UCSC Ensembl
Innerchr2:218043124..218199572hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38156449
hg19156449
hg18156449
hg17156449
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460101
Supporting Variants
Samples1782681219_A
Known GenesDIRC3
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)nssv536720
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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