A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466764



Internal ID15526829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:19111916..19690505hg38UCSC Ensembl
Innerchr10:19400845..19979434hg19UCSC Ensembl
Innerchr10:19440851..20019440hg18UCSC Ensembl
Innerchr10:19440851..20019440hg17UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg38578590
hg19578590
hg18578590
hg17578590
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542230
SamplesHGDP01287
Known Genes
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)nsv466764
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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