A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468532



Internal ID246328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:88876828..88877418hg38UCSC Ensembl
chr5:88172645..88173235hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38591
hg19591
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16968865
Samples
Known GenesMEF2C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468532
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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