A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466859



Internal ID15526924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:34210719..34274997hg38UCSC Ensembl
Innerchr10:34499647..34563925hg19UCSC Ensembl
Innerchr10:34539653..34603931hg18UCSC Ensembl
Innerchr10:34539653..34603931hg17UCSC Ensembl
Cytoband10p11.21
Allele length
AssemblyAllele length
hg3864279
hg1964279
hg1864279
hg1764279
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542313
Samples1788485381_A
Known GenesPARD3
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)nsv466859
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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