A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509426



Internal ID15825452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:70362764..70379748hg38UCSC Ensembl
Outerchr11:70208870..70225854hg19UCSC Ensembl
Outerchr11:69886518..69903502hg18UCSC Ensembl
Outerchr11:69886518..69903502hg17UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg384589
hg194589
hg184589
hg174589
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619382, nssv620820, nssv623453, nssv618087
SamplesCHM, NA15510, NA18994, NA10860
Known GenesPPFIA1
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)nsv509426
Frequency
Sample Size4
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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