A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509288



Internal ID15825314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141957869..142049425hg38UCSC Ensembl
Outerchr8:143039230..143130786hg19UCSC Ensembl
Outerchr8:143037137..143128693hg18UCSC Ensembl
Outerchr8:143037137..143128693hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg385861
hg195861
hg185861
hg175861
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620917, nssv619543
SamplesNA15510, NA10860
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)nsv509288
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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