A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619826



Internal ID15818407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:234201193..234212511hg38UCSC Ensembl
Outerchr1:234336939..234348257hg19UCSC Ensembl
Outerchr1:232403562..232414880hg18UCSC Ensembl
Outerchr1:230643674..230654992hg17UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg383439
hg193439
hg183439
hg173439
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509657
Supporting Variants
SamplesNA10860
Known GenesSLC35F3
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)nssv619826
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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