A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623691



Internal ID15822264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:74745182..74820609hg38UCSC Ensembl
Outerchr10:76504940..76580367hg19UCSC Ensembl
Outerchr10:76174946..76250373hg18UCSC Ensembl
Outerchr10:76174946..76250373hg17UCSC Ensembl
Cytoband10q22.2
Allele length
AssemblyAllele length
hg383924
hg193924
hg183924
hg173924
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509359
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)nssv623691
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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