A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508597



Internal ID15824624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:83748315..83810688hg38UCSC Ensembl
Outerchr10:85508071..85570444hg19UCSC Ensembl
Outerchr10:85498051..85560424hg18UCSC Ensembl
Outerchr10:85498051..85560424hg17UCSC Ensembl
Cytoband10q23.1
Allele length
AssemblyAllele length
hg3862374
hg1962374
hg1862374
hg1762374
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622713
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)nsv508597
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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