A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5979701



Internal ID22754636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30966105..30966105hg38UCSC Ensembl
chr22:31362091..31362091hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38430
hg19430
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17401823
Samples
Known GenesMORC2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5979701
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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