A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623651



Internal ID15822224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:106760712..106798752hg38UCSC Ensembl
Outerchr13:107413060..107451100hg19UCSC Ensembl
Outerchr13:106211061..106249101hg18UCSC Ensembl
Outerchr13:106211061..106249101hg17UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg386959
hg196959
hg186959
hg176959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509514
Supporting Variants
SamplesNA18994
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)nssv623651
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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