A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509185



Internal ID15825211
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
hg385870
hg195870
hg185870
hg175870
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619476, nssv623503
SamplesNA18994, 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)nsv509185
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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