A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540182



Internal ID15506642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:45653..113319hg38UCSC Ensembl
Innerchr7:45653..113319hg19UCSC Ensembl
Innerchr7:140736..208402hg18UCSC Ensembl
Innerchr7:140736..208402hg17UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3867667
hg1967667
hg1867667
hg1767667
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464237
Supporting Variants
SamplesHGDP00538
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)nssv540182
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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