A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5481631



Internal ID259104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:50390076..50394243hg38UCSC Ensembl
chr8:51302636..51306803hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg384168
hg194168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17011438
Samples
Known GenesSNTG1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5481631
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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