A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534709



Internal ID15503669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:78209487..78386985hg38UCSC Ensembl
Innerchr16:78243384..78420882hg19UCSC Ensembl
Innerchr16:76800885..76978383hg18UCSC Ensembl
Innerchr16:76800885..76978383hg17UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg38177499
hg19177499
hg18177499
hg17177499
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457544
Supporting Variants
Samples1780862388_A
Known GenesWWOX
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)nssv534709
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer