A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17495936



Internal ID22553869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:54235870..54241720hg38UCSC Ensembl
chr4:55102037..55107887hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg385851
hg195851
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5839680
Supporting Variants
Samples
Known GenesPDGFRA
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17495936
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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