A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv544291



Internal ID15510905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:9811841..9835428hg38UCSC Ensembl
Innerchr2:9951970..9975557hg19UCSC Ensembl
Innerchr2:9869421..9893008hg18UCSC Ensembl
Innerchr2:9902568..9926155hg17UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3823588
hg1923588
hg1823588
hg1723588
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469427
Supporting Variants
SamplesHGDP01319
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)nssv544291
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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