A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623860



Internal ID15822433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:18926684..19022383hg38UCSC Ensembl
Outerchr11:18948231..19043930hg19UCSC Ensembl
Outerchr11:18904807..19000506hg18UCSC Ensembl
Outerchr11:18904807..19000506hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3810792
hg1910792
hg1810792
hg1710792
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509394
Supporting Variants
SamplesNA18994
Known GenesMRGPRX1
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)nssv623860
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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