A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536596



Internal ID15502225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:181110525..181175566hg38UCSC Ensembl
Innerchr2:181975252..182040293hg19UCSC Ensembl
Innerchr2:181683497..181748538hg18UCSC Ensembl
Innerchr2:181800758..181865799hg17UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg3865042
hg1965042
hg1865042
hg1765042
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459954
Supporting Variants
Samples1780854238_A
Known Genes
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)nssv536596
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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