A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434948



Internal ID213608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48309101..48314157hg38UCSC Ensembl
chr3:48350591..48355647hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg385057
hg195057
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16932698
Samples
Known GenesSPINK8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5434948
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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