A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534739



Internal ID15165214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:83625405..83631037hg38UCSC Ensembl
Innerchr16:83659010..83664642hg19UCSC Ensembl
Innerchr16:82216511..82222143hg18UCSC Ensembl
Innerchr16:82216511..82222143hg17UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg385633
hg195633
hg185633
hg175633
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457586
Supporting Variants
SamplesNINDS_166
Known GenesCDH13
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)nssv534739
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