A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509534



Internal ID15825560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:52172703..52207960hg38UCSC Ensembl
Outerchr14:52639421..52674678hg19UCSC Ensembl
Outerchr14:51709171..51744428hg18UCSC Ensembl
Outerchr14:51709171..51744428hg17UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg387830
hg197830
hg187830
hg177830
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621002, nssv623663
SamplesNA15510, NA18994
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)nsv509534
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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