A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17391198



Internal ID22449068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:12649472..12649472hg38UCSC Ensembl
chr19:12760286..12760286hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5976706
Supporting Variants
Samples
Known GenesMAN2B1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17391198
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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