A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623550



Internal ID15822123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141586467..141764822hg38UCSC Ensembl
Outerchr8:142596567..142846183hg19UCSC Ensembl
Outerchr8:142665749..142844090hg18UCSC Ensembl
Outerchr8:142665749..142844090hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3812217
hg1912217
hg1812217
hg1712217
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509286
Supporting Variants
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)nssv623550
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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