A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536731



Internal ID15507410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:228637903..228725757hg38UCSC Ensembl
Innerchr2:229502619..229590473hg19UCSC Ensembl
Innerchr2:229210863..229298717hg18UCSC Ensembl
Innerchr2:229328124..229415978hg17UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3887855
hg1987855
hg1887855
hg1787855
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460115
Supporting Variants
SamplesHGDP00654
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)nssv536731
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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