A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508344



Internal ID15824371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1905108..1976746hg38UCSC Ensembl
Outerchr5:1905222..1976860hg19UCSC Ensembl
Outerchr5:1958222..2029860hg18UCSC Ensembl
Outerchr5:1958222..2029860hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3871639
hg1971639
hg1871639
hg1771639
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619952
SamplesNA15510
Known Genes
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)nsv508344
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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