A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537331



Internal ID15505875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:119010267..119090661hg38UCSC Ensembl
Innerchr3:118729114..118809508hg19UCSC Ensembl
Innerchr3:120211804..120292198hg18UCSC Ensembl
Innerchr3:120211804..120292198hg17UCSC Ensembl
Cytoband3q13.32
Allele length
AssemblyAllele length
hg3880395
hg1980395
hg1880395
hg1780395
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460831
Supporting Variants
SamplesHGDP00258
Known GenesIGSF11
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)nssv537331
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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