A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536976



Internal ID15511271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:8784055..8812681hg38UCSC Ensembl
Innerchr3:8825741..8854367hg19UCSC Ensembl
Innerchr3:8800741..8829367hg18UCSC Ensembl
Innerchr3:8800741..8829367hg17UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg3828627
hg1928627
hg1828627
hg1728627
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460390
Supporting Variants
SamplesHGDP01380
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)nssv536976
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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