A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508696



Internal ID15824723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:222194198..222224604hg38UCSC Ensembl
Outerchr1:222367540..222397946hg19UCSC Ensembl
Outerchr1:220434163..220464569hg18UCSC Ensembl
Outerchr1:218755935..218786341hg17UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3830407
hg1930407
hg1830407
hg1730407
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620153
SamplesNA15510
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)nsv508696
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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