A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534594



Internal ID15165095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:8746097..8808554hg38UCSC Ensembl
Innerchr16:8839954..8902411hg19UCSC Ensembl
Innerchr16:8747455..8809912hg18UCSC Ensembl
Innerchr16:8747455..8809912hg17UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3862458
hg1962458
hg1862458
hg1762458
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457398
Supporting Variants
SamplesNINDS_146
Known GenesABAT, PMM2, TMEM186
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)nssv534594
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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