A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623503



Internal ID15822076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:1268905..1281427hg38UCSC Ensembl
Outerchr7:1308541..1321063hg19UCSC Ensembl
Outerchr7:1275067..1287589hg18UCSC Ensembl
Outerchr7:1081782..1094304hg17UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg384456
hg194456
hg184456
hg174456
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509185
Supporting Variants
SamplesNA18994
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)nssv623503
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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