A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509748



Internal ID15825774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:47885800..47959719hg38UCSC Ensembl
Outerchr19:48389057..48462976hg19UCSC Ensembl
Outerchr19:53080869..53154788hg18UCSC Ensembl
Outerchr19:53080869..53154788hg17UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3881819
hg1981819
hg1881819
hg1781819
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621077, nssv619752, nssv618133
SamplesCHM, NA15510, NA10860
Known GenesSNAR-A1, SNAR-A10, SNAR-A11, SNAR-A12, SNAR-A13, SNAR-A14, SNAR-A2, SNAR-A3, SNAR-A4, SNAR-A5, SNAR-A6, SNAR-A7, SNAR-A8, SNAR-A9, SNAR-C1, SNAR-C2, SNAR-C3, SNAR-C4, SNAR-C5, SULT2A1
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)nsv509748
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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