A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621115



Internal ID15473779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:243799390..243852598hg38UCSC Ensembl
Outerchr1:243962692..244015900hg19UCSC Ensembl
Outerchr1:242029315..242082523hg18UCSC Ensembl
Outerchr1:240288733..240341941hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg383046
hg193046
hg183046
hg173046
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509724
Supporting Variants
SamplesNA15510
Known GenesAKT3
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)nssv621115
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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