A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508338



Internal ID15824365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:183706705..183759699hg38UCSC Ensembl
Outerchr4:184627858..184680852hg19UCSC Ensembl
Outerchr4:184864852..184917846hg18UCSC Ensembl
Outerchr4:185003007..185056001hg17UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg3852995
hg1952995
hg1852995
hg1752995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618761
SamplesNA10860
Known GenesTRAPPC11
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)nsv508338
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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