A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5395018



Internal ID174444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:210231630..210231681hg38UCSC Ensembl
chr1:210404975..210405026hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16895352
Samples
Known GenesSERTAD4-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5395018
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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