A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534977



Internal ID15509174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:66039150..66098393hg38UCSC Ensembl
Innerchr17:64035268..64094511hg19UCSC Ensembl
Innerchr17:61465730..61524973hg18UCSC Ensembl
Innerchr17:61465730..61524973hg17UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg3859244
hg1959244
hg1859244
hg1759244
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457871
Supporting Variants
SamplesHGDP00952
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)nssv534977
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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