A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3558



Internal ID15201493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:19468068..19509227hg38UCSC Ensembl
Outerchr22:19455591..19496750hg19UCSC Ensembl
Outerchr22:17835591..17876750hg18UCSC Ensembl
Outerchr22:17830145..17871304hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg385085
hg195085
hg185085
hg175085
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4569, nssv1630
SamplesNA12878, NA19240
Known GenesCDC45, UFD1L
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)nsv3558
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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