A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508525



Internal ID15824552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:127134100..127201054hg38UCSC Ensembl
Outerchr8:128146345..128213299hg19UCSC Ensembl
Outerchr8:128215527..128282481hg18UCSC Ensembl
Outerchr8:128215527..128282481hg17UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3866955
hg1966955
hg1866955
hg1766955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618842
SamplesNA10860
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)nsv508525
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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