A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467201



Internal ID15527266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:52937863..53169243hg38UCSC Ensembl
Innerchr10:54697623..54929003hg19UCSC Ensembl
Innerchr10:54367629..54599009hg18UCSC Ensembl
Innerchr10:54367629..54599009hg17UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38231381
hg19231381
hg18231381
hg17231381
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542547
SamplesHGDP00717
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)nsv467201
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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