A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622569



Internal ID15474456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:6494479..6567164hg38UCSC Ensembl
Outerchr7:6534110..6606795hg19UCSC Ensembl
Outerchr7:6500635..6573320hg18UCSC Ensembl
Outerchr7:6307350..6380035hg17UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3872686
hg1972686
hg1872686
hg1772686
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508444
Supporting Variants
SamplesNA18994
Known GenesGRID2IP
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)nssv622569
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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