A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5901986



Internal ID22677139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:120723649..120723698hg38UCSC Ensembl
chr2:121481225..121481274hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17391749
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5901986
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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