A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508442



Internal ID15824469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:4583633..4729997hg38UCSC Ensembl
Outerchr7:4623264..4769628hg19UCSC Ensembl
Outerchr7:4589790..4736154hg18UCSC Ensembl
Outerchr7:4396505..4542869hg17UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38146365
hg19146365
hg18146365
hg17146365
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619986, nssv618803, nssv622567
SamplesNA15510, NA18994, NA10860
Known GenesFOXK1
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)nsv508442
Frequency
Sample Size4
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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