A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5948699



Internal ID22724162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50024174..50161114hg38UCSC Ensembl
chr22:50462603..50599543hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38136941
hg19136941
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17393046
Samples
Known GenesMLC1, MOV10L1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5948699
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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