A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509354



Internal ID15825380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:45336336..45372280hg38UCSC Ensembl
Outerchr10:45831784..45867728hg19UCSC Ensembl
Outerchr10:45151790..45187734hg18UCSC Ensembl
Outerchr10:45151790..45187734hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg3815101
hg1915101
hg1815101
hg1715101
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619646
SamplesNA10860
Known Genes
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)nsv509354
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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