A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5904140



Internal ID22679315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:60375029..60376474hg38UCSC Ensembl
chr5:59670856..59672301hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg381446
hg191446
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17421195
Samples
Known GenesPDE4D
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5904140
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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