A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509747



Internal ID15477245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:44877936..44943426hg38UCSC Ensembl
Outerchr19:45381193..45446683hg19UCSC Ensembl
Outerchr19:50073033..50138523hg18UCSC Ensembl
Outerchr19:50073033..50138523hg17UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg383456
hg193456
hg183456
hg173456
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619751
SamplesNA10860
Known GenesAPOC1, APOC1P1, APOC4, APOC4-APOC2, APOE, PVRL2, TOMM40
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)nsv509747
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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