A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509531



Internal ID15825557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:35941225..35957649hg38UCSC Ensembl
Outerchr14:36410431..36426855hg19UCSC Ensembl
Outerchr14:35480182..35496606hg18UCSC Ensembl
Outerchr14:35480182..35496606hg17UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg386541
hg196541
hg186541
hg176541
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619647
SamplesNA10860
Known Genes
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nsv509531
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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