A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5549707



Internal ID323336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:75495820..75495820hg38UCSC Ensembl
chr12:75889600..75889600hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17689228
Samples
Known GenesGLIPR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5549707
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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