A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448334



Internal ID226613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:182375163..182376324hg38UCSC Ensembl
chr1:182344298..182345459hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg381162
hg191162
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892785
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448334
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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