A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv544265



Internal ID15507089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:5308496..5360169hg38UCSC Ensembl
Innerchr2:5448629..5500302hg19UCSC Ensembl
Innerchr2:5366080..5417753hg18UCSC Ensembl
Innerchr2:5399227..5450900hg17UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3851674
hg1951674
hg1851674
hg1751674
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469382
Supporting Variants
SamplesHGDP00607
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)nssv544265
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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