A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509106



Internal ID15825132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:178347937..178402562hg38UCSC Ensembl
Outerchr5:177774938..177829563hg19UCSC Ensembl
Outerchr5:177707544..177762169hg18UCSC Ensembl
Outerchr5:177707544..177762169hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg384009
hg194009
hg184009
hg174009
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619434
SamplesNA10860
Known GenesCOL23A1
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)nsv509106
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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