A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509265



Internal ID15825291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:51771403..51805367hg38UCSC Ensembl
Outerchr8:52683963..52717927hg19UCSC Ensembl
Outerchr8:52846516..52880480hg18UCSC Ensembl
Outerchr8:52846516..52880480hg17UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg384290
hg194290
hg184290
hg174290
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623537
SamplesNA18994
Known GenesPXDNL
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)nsv509265
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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