A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509724



Internal ID15477222
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
hg383201
hg193201
hg183201
hg173201
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621115, nssv619831
SamplesNA15510, NA10860
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)nsv509724
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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