A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5977946



Internal ID22752881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23939285..23939285hg38UCSC Ensembl
chr14:24408494..24408494hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38202
hg19202
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17369646
Samples
Known GenesDHRS4-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5977946
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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