A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3618



Internal ID15201559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:36775123..36809711hg38UCSC Ensembl
Outerchr22:37171167..37205755hg19UCSC Ensembl
Outerchr22:35501113..35535701hg18UCSC Ensembl
Outerchr22:35495667..35530255hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg385150
hg195150
hg185150
hg175150
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4587
SamplesNA12878
Known GenesIFT27, PVALB
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)nsv3618
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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