A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509716



Internal ID15477214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:3077662..3262653hg38UCSC Ensembl
Outerchr19:3077660..3262651hg19UCSC Ensembl
Outerchr19:3028660..3213651hg18UCSC Ensembl
Outerchr19:3028660..3213651hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg383340
hg193340
hg183340
hg173340
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623744, nssv619742, nssv623745, nssv621058
SamplesNA15510, NA18994, NA10860
Known GenesCELF5, GNA11, GNA15, NCLN, S1PR4
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)nsv509716
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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