A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510916



Internal ID15478410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:57442664..60385011hg38UCSC Ensembl
Outerchr6:57307462..57357050hg19UCSC Ensembl
Outerchr6:57415421..57465009hg18UCSC Ensembl
Outerchr6:57415421..57465009hg17UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg382942348
hg1949589
hg1849589
hg1749589
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621589
SamplesNA15510
Known GenesPRIM2
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)nsv510916
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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