A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509457



Internal ID15476955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:145948024..149021821hg38UCSC Ensembl
Outerchr1:144862650..145487062hg19UCSC Ensembl
Outerchr1:143574007..144198419hg18UCSC Ensembl
Outerchr1:142351694..142976106hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38640064
hg19640064
hg18640064
hg17640064
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621102
SamplesNA15510
Known GenesANKRD34A, HFE2, LIX1L, LOC100288142, LOC101929780, NBPF10, NBPF12, NBPF9, NOTCH2NL, PDE4DIP, POLR3GL, SEC22B, TXNIP
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)nsv509457
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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