A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542633



Internal ID15158884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:65045258..65372541hg38UCSC Ensembl
Innerchr10:66805016..67132299hg19UCSC Ensembl
Innerchr10:66475022..66802305hg18UCSC Ensembl
Innerchr10:66475022..66802305hg17UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg38327284
hg19327284
hg18327284
hg17327284
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467300
Supporting Variants
SamplesHGDP00155
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)nssv542633
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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