A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618839



Internal ID15471957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:104519806..104602175hg38UCSC Ensembl
Outerchr8:105532034..105614403hg19UCSC Ensembl
Outerchr8:105601210..105683579hg18UCSC Ensembl
Outerchr8:105601210..105683579hg17UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg3882370
hg1982370
hg1882370
hg1782370
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508522
Supporting Variants
SamplesNA10860
Known GenesLRP12
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)nssv618839
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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