A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508425



Internal ID15480101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:106838006..107036092hg38UCSC Ensembl
Outerchr6:107285881..107357296hg19UCSC Ensembl
Outerchr6:107392574..107463989hg18UCSC Ensembl
Outerchr6:107392574..107463989hg17UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38198087
hg1971416
hg1871416
hg1771416
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622556
SamplesNA18994
Known GenesC6orf203
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)nsv508425
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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