A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17421195



Internal ID22479065
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 StatusS
Merged Variantsnsv5904140
Supporting Variants
Samples
Known GenesPDE4D
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17421195
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer