A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5460985



Internal ID238949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:1033457..1254000hg38UCSC Ensembl
chr6:1033692..1254235hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38220544
hg19220544
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16979867
Samples
Known GenesLOC285768
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5460985
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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