A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508501



Internal ID15824528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:32824093..32835875hg38UCSC Ensembl
Outerchr8:32681611..32693393hg19UCSC Ensembl
Outerchr8:32801153..32812935hg18UCSC Ensembl
Outerchr8:32801153..32812935hg17UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3811783
hg1911783
hg1811783
hg1711783
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617359, nssv622593, nssv620006, nssv618830
SamplesCHM, NA15510, NA18994, 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)nsv508501
Frequency
Sample Size4
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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