A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508520



Internal ID15480196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:94927145..95127840hg38UCSC Ensembl
Outerchr8:95939373..96140068hg19UCSC Ensembl
Outerchr8:96008549..96209244hg18UCSC Ensembl
Outerchr8:96008549..96209244hg17UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38200696
hg19200696
hg18200696
hg17200696
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618838, nssv622600, nssv622599
SamplesNA18994, NA10860
Known GenesMIR3150A, MIR3150B, NDUFAF6, TP53INP1
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)nsv508520
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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