A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536996



Internal ID15504711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:8784337..8840029hg38UCSC Ensembl
Innerchr3:8826023..8881713hg19UCSC Ensembl
Innerchr3:8801023..8856713hg18UCSC Ensembl
Innerchr3:8801023..8856713hg17UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg3855693
hg1955691
hg1855691
hg1755691
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460415
Supporting Variants
Samples1798860084_A
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)nssv536996
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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