A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543525



Internal ID15156013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:235395391..235463092hg38UCSC Ensembl
Innerchr1:235558706..235626406hg19UCSC Ensembl
Innerchr1:233625329..233693029hg18UCSC Ensembl
Innerchr1:231884747..231952447hg17UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3867702
hg1967701
hg1867701
hg1767701
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468406
Supporting Variants
Samples1780854491_A
Known GenesB3GALNT2, TBCE
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)nssv543525
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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