A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509015



Internal ID15825041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:120215805..120258125hg38UCSC Ensembl
Outerchr4:121136960..121179280hg19UCSC Ensembl
Outerchr4:121356410..121398730hg18UCSC Ensembl
Outerchr4:121494565..121536885hg17UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg385671
hg195671
hg185671
hg175671
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623416
SamplesNA18994
Known Genes
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)nsv509015
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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