A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438623



Internal ID217183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196029714..196034687hg38UCSC Ensembl
chr3:195756585..195761558hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg384974
hg194974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16944555
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438623
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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