A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460506



Internal ID15520571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:14580718..14655424hg38UCSC Ensembl
Innerchr1:14907214..14981920hg19UCSC Ensembl
Innerchr1:14779801..14854507hg18UCSC Ensembl
Innerchr1:14652520..14727226hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3874707
hg1974707
hg1874707
hg1774707
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537067
SamplesHGDP00554
Known GenesKAZN
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)nsv460506
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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