A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3258



Internal ID15537986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:59060064..59100286hg38UCSC Ensembl
Outerchr4:59925782..59966004hg19UCSC Ensembl
Outerchr4:59608377..59648599hg18UCSC Ensembl
Outerchr4:59754548..59794770hg17UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3840223
hg1940223
hg1840223
hg1740223
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4352
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)nssv3258
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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