A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619651



Internal ID15818232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:76908166..76965091hg38UCSC Ensembl
Outerchr14:77374509..77431434hg19UCSC Ensembl
Outerchr14:76444262..76501187hg18UCSC Ensembl
Outerchr14:76444262..76501187hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg383744
hg193744
hg183744
hg173744
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509540
Supporting Variants
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)nssv619651
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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