A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510967



Internal ID15826989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:113763142..113783897hg38UCSC Ensembl
Outerchr7:113403197..113423952hg19UCSC Ensembl
Outerchr7:113190433..113211188hg18UCSC Ensembl
Outerchr7:112997148..113017903hg17UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg3820756
hg1920756
hg1820756
hg1720756
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622382
SamplesNA10860
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)nsv510967
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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