A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508348



Internal ID15824375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:80937807..80982717hg38UCSC Ensembl
Outerchr1:81403492..81448402hg19UCSC Ensembl
Outerchr1:81176080..81220990hg18UCSC Ensembl
Outerchr1:81115513..81160423hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3844911
hg1944911
hg1844911
hg1744911
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618977, nssv617489
SamplesCHM, 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)nsv508348
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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