A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536975



Internal ID15503134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:8780666..8816277hg38UCSC Ensembl
Innerchr3:8822352..8857963hg19UCSC Ensembl
Innerchr3:8797352..8832963hg18UCSC Ensembl
Innerchr3:8797352..8832963hg17UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg3835612
hg1935612
hg1835612
hg1735612
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460389
Supporting Variants
Samples1780862089_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)nssv536975
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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