A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5896191



Internal ID22671280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:120698423..120846803hg38UCSC Ensembl
chr4:121619578..121767958hg19UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg38148381
hg19148381
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17429413
Samples
Known GenesPRDM5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5896191
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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