A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508297



Internal ID15479973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:86857630..86947356hg38UCSC Ensembl
Outerchr4:87778783..87868508hg19UCSC Ensembl
Outerchr4:87997807..88087532hg18UCSC Ensembl
Outerchr4:88135962..88225687hg17UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg3889727
hg1989726
hg1889726
hg1789726
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618746
SamplesNA10860
Known GenesAFF1, C4orf36, LOC100506746
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)nsv508297
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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