A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5461040



Internal ID239005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:75174557..75178164hg38UCSC Ensembl
chr5:74470382..74473989hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg383608
hg193608
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16968350
Samples
Known GenesANKRD31
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5461040
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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