A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468683



Internal ID15528748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:242575781..242977797hg38UCSC Ensembl
Innerchr1:242739083..243141099hg19UCSC Ensembl
Innerchr1:240805706..241207722hg18UCSC Ensembl
Innerchr1:239065124..239467140hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38402017
hg19402017
hg18402017
hg17402017
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543774
SamplesHGDP01215
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)nsv468683
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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