A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534772



Internal ID15159617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:89957794..90083514hg38UCSC Ensembl
Innerchr16:90024202..90149922hg19UCSC Ensembl
Innerchr16:88551703..88677423hg18UCSC Ensembl
Innerchr16:88551703..88677423hg17UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38125721
hg19125721
hg18125721
hg17125721
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457626
Supporting Variants
SamplesHGDP00460
Known GenesAFG3L1P, C16orf3, CENPBD1, DBNDD1, DEF8, GAS8, PRDM7, URAHP
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)nssv534772
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