A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509737



Internal ID15477235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:34228715..34287224hg38UCSC Ensembl
Outerchr19:34719620..34778129hg19UCSC Ensembl
Outerchr19:39411460..39469969hg18UCSC Ensembl
Outerchr19:39411460..39469969hg17UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg388091
hg198091
hg188091
hg178091
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621072, nssv618130, nssv623756, nssv619748
SamplesCHM, NA18994, NA15510, NA10860
Known GenesKIAA0355, LSM14A
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)nsv509737
Frequency
Sample Size4
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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