A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510889



Internal ID15478383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:22343733..22421646hg38UCSC Ensembl
Outerchr4:22345356..22423269hg19UCSC Ensembl
Outerchr4:21954454..22032367hg18UCSC Ensembl
Outerchr4:22021625..22099538hg17UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3877914
hg1977914
hg1877914
hg1777914
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621572
SamplesNA15510
Known GenesGPR125
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)nsv510889
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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