A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460494



Internal ID15520559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:14350414..14377358hg38UCSC Ensembl
Innerchr1:14676909..14703854hg19UCSC Ensembl
Innerchr1:14549496..14576441hg18UCSC Ensembl
Innerchr1:14422215..14449160hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3826945
hg1926946
hg1826946
hg1726946
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537055
Samples1780862466_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)nsv460494
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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