A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430184



Internal ID209001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:85277326..85277485hg38UCSC Ensembl
chr1:85743009..85743168hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16905543
Samples
Known GenesLOC646626
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430184
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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