A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5025



Internal ID15203107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:138453658..138483063hg38UCSC Ensembl
Outerchr5:137789347..137818752hg19UCSC Ensembl
Outerchr5:137817246..137846651hg18UCSC Ensembl
Outerchr5:137817246..137846651hg17UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3829406
hg1929406
hg1829406
hg1729406
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3388
SamplesNA12878
Known GenesEGR1
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv5025
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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