A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17405675



Internal ID22463545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38526515..38526515hg38UCSC Ensembl
chr22:38922520..38922520hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5968837
Supporting Variants
Samples
Known GenesDMC1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17405675
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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