A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17475969



Internal ID22533867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42100022..42102076hg38UCSC Ensembl
chr19:42604174..42606228hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg382055
hg192055
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5869717
Supporting Variants
Samples
Known GenesPOU2F2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17475969
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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