A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509717



Internal ID15477215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:3271020..3392050hg38UCSC Ensembl
Outerchr19:3271018..3392048hg19UCSC Ensembl
Outerchr19:3222018..3343048hg18UCSC Ensembl
Outerchr19:3222018..3343048hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg385225
hg195225
hg185225
hg175225
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623746, nssv623747
SamplesNA18994
Known GenesCELF5, NFIC
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)nsv509717
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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