A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536752



Internal ID15509647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:236752139..236811991hg38UCSC Ensembl
Innerchr2:237660782..237720634hg19UCSC Ensembl
Innerchr2:237325521..237385373hg18UCSC Ensembl
Innerchr2:237442782..237502634hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3859853
hg1959853
hg1859853
hg1759853
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv460144
Supporting Variants
SamplesHGDP01057
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)nssv536752
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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