A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457395



Internal ID15170774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:8724825..8829358hg38UCSC Ensembl
Innerchr16:8818682..8923215hg19UCSC Ensembl
Innerchr16:8726183..8830716hg18UCSC Ensembl
Innerchr16:8726183..8830716hg17UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38104534
hg19104534
hg18104534
hg17104534
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv341n27
Supporting Variantsnssv534591
SamplesHGDP01063
Known GenesABAT, PMM2, TMEM186
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)nsv457395
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