A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv507552



Internal ID15479231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:51809004..51815004hg38UCSC Ensembl
Outerchr10:53568764..53574764hg19UCSC Ensembl
Outerchr10:53238770..53244770hg18UCSC Ensembl
Outerchr10:53238770..53244770hg17UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620572, nssv617802
SamplesCHM, NA15510
Known GenesPRKG1
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)nsv507552
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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