A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620917



Internal ID15820268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141957869..142049425hg38UCSC Ensembl
Outerchr8:143039230..143130786hg19UCSC Ensembl
Outerchr8:143037137..143128693hg18UCSC Ensembl
Outerchr8:143037137..143128693hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg383574
hg193574
hg183574
hg173574
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509288
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)nssv620917
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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