A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508943



Internal ID15824969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:99479585..99539590hg38UCSC Ensembl
Outerchr3:99198429..99258434hg19UCSC Ensembl
Outerchr3:100681119..100741124hg18UCSC Ensembl
Outerchr3:100681119..100741124hg17UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg388021
hg198021
hg188021
hg178021
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620769
SamplesNA15510
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)nsv508943
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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