A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508295



Internal ID15824322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:84901649..84963874hg38UCSC Ensembl
Outerchr4:85822802..85885027hg19UCSC Ensembl
Outerchr4:86041826..86104051hg18UCSC Ensembl
Outerchr4:86179981..86242206hg17UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg3862226
hg1962226
hg1862226
hg1762226
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618744
SamplesNA10860
Known GenesWDFY3
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)nsv508295
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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