A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508300



Internal ID15824327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:102936879..102955672hg38UCSC Ensembl
Outerchr4:103858036..103876829hg19UCSC Ensembl
Outerchr4:104077485..104096278hg18UCSC Ensembl
Outerchr4:104215640..104234433hg17UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg3818794
hg1918794
hg1818794
hg1718794
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622493
SamplesNA18994
Known GenesSLC9B1
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)nsv508300
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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