A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466759



Internal ID15526824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:16980970..17005782hg38UCSC Ensembl
Innerchr10:17022969..17047781hg19UCSC Ensembl
Innerchr10:17062975..17087787hg18UCSC Ensembl
Innerchr10:17062975..17087787hg17UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg3824813
hg1924813
hg1824813
hg1724813
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542226
SamplesHGDP00208
Known GenesCUBN
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)nsv466759
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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