A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509738



Internal ID15477236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:34351799..34412408hg38UCSC Ensembl
Outerchr19:34842704..34903313hg19UCSC Ensembl
Outerchr19:39534544..39595153hg18UCSC Ensembl
Outerchr19:39534544..39595153hg17UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg3816469
hg1916469
hg1816469
hg1716469
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618131, nssv623757, nssv619749, nssv621073
SamplesCHM, NA18994, NA15510, NA10860
Known GenesGPI, KIAA0355, PDCD2L
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)nsv509738
Frequency
Sample Size4
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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