A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508296



Internal ID15479972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:86715197..86746219hg38UCSC Ensembl
Outerchr4:87636350..87667372hg19UCSC Ensembl
Outerchr4:87855374..87886396hg18UCSC Ensembl
Outerchr4:87993529..88024551hg17UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg3831023
hg1931023
hg1831023
hg1731023
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617493, nssv618745
SamplesCHM, NA10860
Known GenesPTPN13
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)nsv508296
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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