A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508469



Internal ID15824496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:93786892..93796446hg38UCSC Ensembl
Outerchr7:93416204..93425758hg19UCSC Ensembl
Outerchr7:93254140..93263694hg18UCSC Ensembl
Outerchr7:93060855..93070409hg17UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg389555
hg199555
hg189555
hg179555
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622580
SamplesNA18994
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)nsv508469
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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