A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618757



Internal ID15818561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:166565959..166652831hg38UCSC Ensembl
Outerchr4:167487111..167573982hg19UCSC Ensembl
Outerchr4:167706561..167793431hg18UCSC Ensembl
Outerchr4:167844716..167931586hg17UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg3886873
hg1986872
hg1886871
hg1786871
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508328
Supporting Variants
SamplesNA10860
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)nssv618757
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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