A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5878530



Internal ID22653496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:246929651..246930665hg38UCSC Ensembl
chr1:247092953..247093967hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381015
hg191015
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17367117
Samples
Known GenesAHCTF1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5878530
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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