A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467478



Internal ID15527543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:126698580..126880976hg38UCSC Ensembl
Innerchr10:128387149..128569545hg19UCSC Ensembl
Innerchr10:128377139..128559535hg18UCSC Ensembl
Innerchr10:128377139..128559535hg17UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg38182397
hg19182397
hg18182397
hg17182397
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542764
Samples1780862224_A
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)nsv467478
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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