A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467293



Internal ID8494340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:62396351..62464341hg38UCSC Ensembl
Innerchr10:64156110..64224100hg19UCSC Ensembl
Innerchr10:63826116..63894106hg18UCSC Ensembl
Innerchr10:63826116..63894106hg17UCSC Ensembl
Cytoband10q21.2
Allele length
AssemblyAllele length
hg3867991
hg1967991
hg1867991
hg1767991
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542629
SamplesNINDS_56
Known GenesZNF365
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)nsv467293
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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