A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621210



Internal ID15820560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:84883852..84902897hg38UCSC Ensembl
Outerchr3:84933003..84952048hg19UCSC Ensembl
Outerchr3:85015693..85034738hg18UCSC Ensembl
Outerchr3:85015693..85034738hg17UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg3815143
hg1915143
hg1815143
hg1715143
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv508938
Supporting Variants
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)nssv621210
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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