A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509133



Internal ID15825159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:51053654..51234394hg38UCSC Ensembl
Outerchr6:51021367..51099192hg19UCSC Ensembl
Outerchr6:51129326..51207151hg18UCSC Ensembl
Outerchr6:51129326..51207151hg17UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg38109458
hg19109458
hg18109458
hg17109458
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620850, nssv618050, nssv619451
SamplesCHM, NA15510, 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)nsv509133
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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