A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5458656



Internal ID236676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:14328506..14330706hg38UCSC Ensembl
chr5:14328615..14330815hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg382201
hg192201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16962664
Samples
Known GenesTRIO
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5458656
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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