A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509521



Internal ID8792461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113308960..113394480hg38UCSC Ensembl
Outerchr13:113963275..114048795hg19UCSC Ensembl
Outerchr13:113011276..113096796hg18UCSC Ensembl
Outerchr13:113011276..113096796hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg384355
hg194355
hg184355
hg174355
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623655, nssv619643
SamplesNA18994, NA10860
Known GenesGRTP1, LAMP1
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)nsv509521
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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