A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536985



Internal ID15511618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:8784337..8812681hg38UCSC Ensembl
Innerchr3:8826023..8854367hg19UCSC Ensembl
Innerchr3:8801023..8829367hg18UCSC Ensembl
Innerchr3:8801023..8829367hg17UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg3828345
hg1928345
hg1828345
hg1728345
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460399
Supporting Variants
SamplesNINDS_12
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)nssv536985
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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