A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508907



Internal ID15824933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:20699833..20717505hg38UCSC Ensembl
Outerchr3:20741325..20758997hg19UCSC Ensembl
Outerchr3:20716329..20734001hg18UCSC Ensembl
Outerchr3:20716329..20734001hg17UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg383255
hg193255
hg183255
hg173255
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619316
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)nsv508907
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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