A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508488



Internal ID15480164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:143195195..143259273hg38UCSC Ensembl
Outerchr7:142892288..142956366hg19UCSC Ensembl
Outerchr7:142602410..142666488hg18UCSC Ensembl
Outerchr7:142409125..142473203hg17UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3864079
hg1964079
hg1864079
hg1764079
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618824
SamplesNA10860
Known GenesTAS2R40
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)nsv508488
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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