A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467468



Internal ID15527533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:122143618..122153815hg38UCSC Ensembl
Innerchr10:123903133..123913330hg19UCSC Ensembl
Innerchr10:123893123..123903320hg18UCSC Ensembl
Innerchr10:123893123..123903320hg17UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg3810198
hg1910198
hg1810198
hg1710198
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542756
SamplesHGDP01169
Known GenesTACC2
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)nsv467468
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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