A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3556



Internal ID15201491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17914502..17947728hg38UCSC Ensembl
Outerchr22:18397268..18430494hg19UCSC Ensembl
Outerchr22:16777268..16810494hg18UCSC Ensembl
Outerchr22:16771822..16805048hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg385990
hg195990
hg185990
hg175990
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5914
SamplesNA19129
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)nsv3556
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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