A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4433404



Internal ID21395406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17876235..17878234hg38UCSC Ensembl
chr22:18359001..18361000hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg382000
hg192000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15750570, nssv15745731, nssv15753179, nssv15752652, nssv15751200
SamplesNB12, BTQ055, NB11, NB07, NB09
Known GenesMICAL3
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4433404
Frequency
Sample Size15
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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