A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509539



Internal ID15477037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:67383566..67405348hg38UCSC Ensembl
Outerchr14:67850283..67872065hg19UCSC Ensembl
Outerchr14:66920036..66941818hg18UCSC Ensembl
Outerchr14:66920036..66941818hg17UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg383229
hg193229
hg183229
hg173229
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618107
SamplesCHM
Known GenesEIF2S1, PLEK2
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)nsv509539
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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