A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470028



Internal ID247800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:153791156..153792348hg38UCSC Ensembl
chr5:153170716..153171908hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg381193
hg191193
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16975188
Samples
Known GenesGRIA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470028
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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