A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510599



Internal ID15478095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236708608..236721707hg38UCSC Ensembl
Outerchr1:236871908..236885007hg19UCSC Ensembl
Outerchr1:234938531..234951630hg18UCSC Ensembl
Outerchr1:233197949..233211048hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3813100
hg1913100
hg1813100
hg1713100
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618637
SamplesCHM
Known GenesACTN2
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)nsv510599
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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