A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508512



Internal ID15824539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:68356559..68412297hg38UCSC Ensembl
Outerchr8:69268794..69324532hg19UCSC Ensembl
Outerchr8:69431348..69487086hg18UCSC Ensembl
Outerchr8:69431348..69487086hg17UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg3855739
hg1955739
hg1855739
hg1755739
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618834
SamplesNA10860
Known GenesC8orf34
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)nsv508512
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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