A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv624323



Internal ID15476210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:7499082..8164506hg38UCSC Ensembl
Outerchr8:7356604..8022028hg19UCSC Ensembl
Outerchr8:7344014..8059438hg18UCSC Ensembl
Outerchr8:7344014..8059438hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38665425
hg19665425
hg18715425
hg17715425
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510977
Supporting Variants
SamplesNA18994
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, FAM66E, FAM90A10P, FAM90A7P, MIR548I3, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L3, USP17L8, 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)nssv624323
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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