A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4940



Internal ID15549700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:104476763..104561525hg38UCSC Ensembl
Outerchr5:103812464..103897226hg19UCSC Ensembl
Outerchr5:103840363..103925125hg18UCSC Ensembl
Outerchr5:103840363..103925125hg17UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg3884763
hg1984763
hg1884763
hg1784763
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv483, nssv11107, nssv10466, nssv3375, nssv6016
SamplesNA12156, NA12878, NA18956, NA15510, NA19240
Known Genes
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)nsv4940
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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