A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510946



Internal ID15826968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:73911494..73946669hg38UCSC Ensembl
Outerchr11:73622539..73657714hg19UCSC Ensembl
Outerchr11:73300187..73335362hg18UCSC Ensembl
Outerchr11:73300187..73335362hg17UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3835176
hg1935176
hg1835176
hg1735176
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624302
SamplesNA18994
Known GenesPAAF1
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)nsv510946
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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