A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457617



Internal ID15170996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:88801844..88829729hg38UCSC Ensembl
Innerchr16:88868252..88896137hg19UCSC Ensembl
Innerchr16:87395753..87423638hg18UCSC Ensembl
Innerchr16:87395753..87423638hg17UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3827886
hg1927886
hg1827886
hg1727886
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534763
SamplesHGDP00078
Known GenesAPRT, CDT1, GALNS
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)nsv457617
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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