A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508385



Internal ID15824412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:153957762..154078122hg38UCSC Ensembl
Outerchr5:153337322..153457682hg19UCSC Ensembl
Outerchr5:153317515..153437875hg18UCSC Ensembl
Outerchr5:153317515..153437875hg17UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg38120361
hg19120361
hg18120361
hg17120361
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622538, nssv622537
SamplesNA18994
Known GenesFAM114A2, MFAP3
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)nsv508385
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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