A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534975



Internal ID15511798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:65792075..65899953hg38UCSC Ensembl
Innerchr17:63788193..63896071hg19UCSC Ensembl
Innerchr17:61218655..61326533hg18UCSC Ensembl
Innerchr17:61218655..61326533hg17UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg38107879
hg19107879
hg18107879
hg17107879
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457868
Supporting Variants
SamplesNINDS_147
Known GenesCEP112
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)nssv534975
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