A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508301



Internal ID15479977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:106127929..106171573hg38UCSC Ensembl
Outerchr4:107049086..107092730hg19UCSC Ensembl
Outerchr4:107268535..107312179hg18UCSC Ensembl
Outerchr4:107406690..107450334hg17UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg3843645
hg1943645
hg1843645
hg1743645
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622495, nssv618748
SamplesNA18994, NA10860
Known GenesTBCK
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)nsv508301
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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