A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3555



Internal ID15201490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17859614..17893494hg38UCSC Ensembl
Outerchr22:18342380..18376260hg19UCSC Ensembl
Outerchr22:16722380..16756260hg18UCSC Ensembl
Outerchr22:16716934..16750814hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg385211
hg195211
hg185211
hg175211
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5913, nssv4568
SamplesNA19129, NA12878
Known GenesMICAL3
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)nsv3555
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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