A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457869



Internal ID15517934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:65843432..65899953hg38UCSC Ensembl
Innerchr17:63839550..63896071hg19UCSC Ensembl
Innerchr17:61270012..61326533hg18UCSC Ensembl
Innerchr17:61270012..61326533hg17UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg3856522
hg1956522
hg1856522
hg1756522
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534976
SamplesNINDS_241
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)nsv457869
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