A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470629



Internal ID248383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:154847675..154854486hg38UCSC Ensembl
chr5:154227235..154234046hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg386812
hg196812
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16977310
Samples
Known GenesFAXDC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470629
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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