A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17496476



Internal ID22554410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:626507..640755hg38UCSC Ensembl
chr4:620296..634544hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3814249
hg1914249
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5839399
Supporting Variants
Samples
Known GenesPDE6B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17496476
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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