A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623793



Internal ID15822366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:128383871..128478038hg38UCSC Ensembl
Outerchr10:130182135..130276302hg19UCSC Ensembl
Outerchr10:130072125..130166292hg18UCSC Ensembl
Outerchr10:130072125..130166292hg17UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg3821313
hg1921313
hg1821313
hg1721313
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509373
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)nssv623793
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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