A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3291



Internal ID15538019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:144387091..144403275hg38UCSC Ensembl
Outerchr4:145308243..145324427hg19UCSC Ensembl
Outerchr4:145527693..145543877hg18UCSC Ensembl
Outerchr4:145665848..145682032hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3816185
hg1916185
hg1816185
hg1716185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4534
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)nssv3291
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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