A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620913



Internal ID15820264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:128699127..128728419hg38UCSC Ensembl
Outerchr8:129711373..129740665hg19UCSC Ensembl
Outerchr8:129780555..129809847hg18UCSC Ensembl
Outerchr8:129780555..129809847hg17UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg383971
hg193971
hg183971
hg173971
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509277
Supporting Variants
SamplesNA15510
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)nssv620913
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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