A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509719



Internal ID15825745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:7390693..7484911hg38UCSC Ensembl
Outerchr19:7455579..7549797hg19UCSC Ensembl
Outerchr19:7361579..7455797hg18UCSC Ensembl
Outerchr19:7361579..7455797hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3817886
hg1917886
hg1817886
hg1717886
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621059, nssv619743, nssv623749
SamplesNA15510, NA18994, NA10860
Known GenesARHGEF18, LOC100128573, PEX11G
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)nsv509719
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer