A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3352



Internal ID15538080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:58018912..58038991hg38UCSC Ensembl
Outerchr5:57314739..57334818hg19UCSC Ensembl
Outerchr5:57350496..57370575hg18UCSC Ensembl
Outerchr5:57350496..57370575hg17UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3820080
hg1920080
hg1820080
hg1720080
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4840
Supporting Variants
SamplesNA12878
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)nssv3352
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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