A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534691



Internal ID15159959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:75453860..75570027hg38UCSC Ensembl
Innerchr16:75487758..75603925hg19UCSC Ensembl
Innerchr16:74045259..74161426hg18UCSC Ensembl
Innerchr16:74045259..74161426hg17UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg38116168
hg19116168
hg18116168
hg17116168
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457521
Supporting Variants
SamplesHGDP00538
Known GenesCHST5, CHST6, GABARAPL2, TMEM170A, TMEM231
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)nssv534691
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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