A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509018



Internal ID15476516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:150237671..150265252hg38UCSC Ensembl
Outerchr4:151158823..151186404hg19UCSC Ensembl
Outerchr4:151378273..151405854hg18UCSC Ensembl
Outerchr4:151516428..151544009hg17UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg388368
hg198368
hg188368
hg178368
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619385, nssv620796
SamplesNA15510, NA10860
Known GenesDCLK2, LRBA
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)nsv509018
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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