A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444172



Internal ID222552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:198896624..198896711hg38UCSC Ensembl
chr1:198865753..198865840hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16893553
Samples
Known GenesMIR181A1HG
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444172
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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