A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508452



Internal ID15824479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:49676920..49690534hg38UCSC Ensembl
Outerchr7:49716516..49730130hg19UCSC Ensembl
Outerchr7:49687062..49700676hg18UCSC Ensembl
Outerchr7:49493777..49507391hg17UCSC Ensembl
Cytoband7p12.2
Allele length
AssemblyAllele length
hg3813615
hg1913615
hg1813615
hg1713615
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622573, nssv617347, nssv619988, nssv618808
SamplesCHM, NA15510, NA18994, NA10860
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)nsv508452
Frequency
Sample Size4
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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