A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508444



Internal ID15480120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:6494479..6660896hg38UCSC Ensembl
Outerchr7:6534110..6700527hg19UCSC Ensembl
Outerchr7:6500635..6667052hg18UCSC Ensembl
Outerchr7:6307350..6473767hg17UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38166418
hg19166418
hg18166418
hg17166418
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622570, nssv622569
SamplesNA18994
Known GenesC7orf26, GRID2IP, ZDHHC4, ZNF316, ZNF853
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)nsv508444
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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