A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510906



Internal ID15826707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:127996015..128008880hg38UCSC Ensembl
Outerchr6:128317160..128330025hg19UCSC Ensembl
Outerchr6:128358853..128371718hg18UCSC Ensembl
Outerchr6:128358853..128371718hg17UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg3812866
hg1912866
hg1812866
hg1712866
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622378
SamplesNA10860
Known GenesPTPRK
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)nsv510906
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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