A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618828



Internal ID15471946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:7495101..7962639hg38UCSC Ensembl
Outerchr8:7352623..7820161hg19UCSC Ensembl
Outerchr8:7340033..7857571hg18UCSC Ensembl
Outerchr8:7340033..7857571hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38467539
hg19467539
hg18517539
hg17517539
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508496
Supporting Variants
SamplesNA10860
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, FAM66E, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, ZNF705B
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)nssv618828
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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