A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509242



Internal ID15825268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:1159947..1230875hg38UCSC Ensembl
Outerchr8:1109947..1180875hg19UCSC Ensembl
Outerchr8:1097354..1168282hg18UCSC Ensembl
Outerchr8:1097354..1168282hg17UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg383022
hg193022
hg183022
hg173022
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623525
SamplesNA18994
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)nsv509242
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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