A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534605



Internal ID15510229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:11630499..11660598hg38UCSC Ensembl
Innerchr16:11724355..11754454hg19UCSC Ensembl
Innerchr16:11631856..11661955hg18UCSC Ensembl
Innerchr16:11631856..11661955hg17UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg3830100
hg1930100
hg1830100
hg1730100
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457410
Supporting Variants
SamplesHGDP01211
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)nssv534605
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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