A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536973



Internal ID15504165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:8779054..8816277hg38UCSC Ensembl
Innerchr3:8820740..8857963hg19UCSC Ensembl
Innerchr3:8795740..8832963hg18UCSC Ensembl
Innerchr3:8795740..8832963hg17UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg3837224
hg1937224
hg1837224
hg1737224
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460387
Supporting Variants
Samples1780862578_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)nssv536973
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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