A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4840



Internal ID15549590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:58015175..58056919hg38UCSC Ensembl
Outerchr5:57311002..57352746hg19UCSC Ensembl
Outerchr5:57346759..57388503hg18UCSC Ensembl
Outerchr5:57346759..57388503hg17UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3841745
hg1941745
hg1841745
hg1741745
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9665, nssv3352, nssv11105, nssv2521, nssv5996, nssv9410, nssv4837, nssv10453, nssv469
SamplesNA18507, NA12156, NA12878, NA18956, NA15510, NA18555, NA18517, NA19240, NA19129
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)nsv4840
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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