A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5441404



Internal ID219878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:185742493..185748666hg38UCSC Ensembl
chr1:185711625..185717798hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg386174
hg196174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892922
Samples
Known GenesHMCN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5441404
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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