A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5467516



Internal ID245327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:71364961..71371466hg38UCSC Ensembl
chr4:72230678..72237183hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg386506
hg196506
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16950663
Samples
Known GenesSLC4A4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5467516
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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