A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5889738



Internal ID22664758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:94296105..94304989hg38UCSC Ensembl
chr4:95217256..95226140hg19UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg388885
hg198885
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17417999
Samples
Known GenesHPGDS
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5889738
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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