A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542397



Internal ID15508694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:191459351..191536843hg38UCSC Ensembl
Innerchr1:191428481..191505973hg19UCSC Ensembl
Innerchr1:189695104..189772596hg18UCSC Ensembl
Innerchr1:188160138..188237630hg17UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3877493
hg1977493
hg1877493
hg1777493
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466961
Supporting Variants
SamplesHGDP00885
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)nssv542397
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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