A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5963466



Internal ID22738401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44003253..44006278hg38UCSC Ensembl
chr22:44399133..44402158hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg383026
hg193026
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17399230
Samples
Known GenesPARVB
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5963466
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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