A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6141376



Internal ID340572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:72948827..73184932hg38UCSC Ensembl
chr4:73814544..74050649hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38236106
hg19236106
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16952215
Samples
Known GenesANKRD17, COX18
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6141376
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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