A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510954



Internal ID15826976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170372434..170396066hg38UCSC Ensembl
Outerchr6:170681522..170705154hg19UCSC Ensembl
Outerchr6:170523447..170547079hg18UCSC Ensembl
Outerchr6:170599154..170622786hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3823633
hg1923633
hg1823633
hg1723633
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618656
SamplesCHM
Known GenesFAM120B
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)nsv510954
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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