A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509250



Internal ID15825276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:9076439..9126432hg38UCSC Ensembl
Outerchr8:8933949..8983942hg19UCSC Ensembl
Outerchr8:8971359..9021352hg18UCSC Ensembl
Outerchr8:8971359..9021352hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381850
hg191850
hg181850
hg171850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623528
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)nsv509250
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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