A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509277



Internal ID15825303
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
hg384038
hg194038
hg184038
hg174038
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620913, nssv623545, nssv619533
SamplesNA15510, NA18994, NA10860
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)nsv509277
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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