A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508595



Internal ID15824622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:76780782..76842616hg38UCSC Ensembl
Outerchr10:78540540..78602374hg19UCSC Ensembl
Outerchr10:78210546..78272380hg18UCSC Ensembl
Outerchr10:78210546..78272380hg17UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg3861835
hg1961835
hg1861835
hg1761835
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617380
SamplesCHM
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)nsv508595
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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