A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509114



Internal ID15825140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:181314916..181337385hg38UCSC Ensembl
Outerchr5:180741917..180764386hg19UCSC Ensembl
Outerchr5:180674523..180696992hg18UCSC Ensembl
Outerchr5:180674523..180696992hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg386376
hg196376
hg186376
hg176376
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623466, nssv619441, nssv620842
SamplesNA15510, NA18994, NA10860
Known GenesLOC100132062, LOC100132287, LOC100133331
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)nsv509114
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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