A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534979



Internal ID15510397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:66102427..66184280hg38UCSC Ensembl
Innerchr17:64098545..64180398hg19UCSC Ensembl
Innerchr17:61529007..61610860hg18UCSC Ensembl
Innerchr17:61529007..61610860hg17UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg3881854
hg1981854
hg1881854
hg1781854
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457878
Supporting Variants
SamplesHGDP01238
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)nssv534979
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