A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510962



Internal ID15478456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:146152975..149021821hg38UCSC Ensembl
Outerchr1:144862650..145285203hg19UCSC Ensembl
Outerchr1:143574007..143996560hg18UCSC Ensembl
Outerchr1:142351694..142774247hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg382868847
hg19422554
hg18422554
hg17422554
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622425, nssv624361
SamplesNA18994, NA10860
Known GenesLOC100288142, NBPF12, NBPF9, NOTCH2NL, PDE4DIP, SEC22B
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)nsv510962
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex2
Frequencyn/a


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