A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508466



Internal ID15824493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:91375740..91430547hg38UCSC Ensembl
Outerchr7:91005055..91059862hg19UCSC Ensembl
Outerchr7:90842991..90897798hg18UCSC Ensembl
Outerchr7:90649706..90704513hg17UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg3854808
hg1954808
hg1854808
hg1754808
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619993
SamplesNA15510
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)nsv508466
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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