A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509119



Internal ID15825145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:13495152..13524274hg38UCSC Ensembl
Outerchr6:13495384..13524506hg19UCSC Ensembl
Outerchr6:13603363..13632485hg18UCSC Ensembl
Outerchr6:13603363..13632485hg17UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg386521
hg196521
hg186521
hg176521
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619444, nssv623469, nssv620845
SamplesNA15510, NA18994, 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)nsv509119
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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