A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5884970



Internal ID22659954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234548726..234549968hg38UCSC Ensembl
chr1:234684472..234685714hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg381243
hg191243
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17361759
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5884970
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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