A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509365



Internal ID15476863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:103207187..103316390hg38UCSC Ensembl
Outerchr10:104966944..105076147hg19UCSC Ensembl
Outerchr10:104956934..105066137hg18UCSC Ensembl
Outerchr10:104956934..105066137hg17UCSC Ensembl
Cytoband10q24.33
Allele length
AssemblyAllele length
hg384312
hg194312
hg184312
hg174312
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623755
SamplesNA18994
Known GenesINA, LOC729020, PCGF6
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)nsv509365
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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