A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538319



Internal ID15512258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:28763545..28870396hg38UCSC Ensembl
Innerchr5:28763652..28870503hg19UCSC Ensembl
Innerchr5:28799409..28906260hg18UCSC Ensembl
Innerchr5:28799409..28906260hg17UCSC Ensembl
Cytoband5p14.1
Allele length
AssemblyAllele length
hg38106852
hg19106852
hg18106852
hg17106852
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462029
Supporting Variants
SamplesNINDS_222
Known Genes
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)nssv538319
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