A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5889285



Internal ID22664301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:164577741..164577860hg38UCSC Ensembl
chr2:165434251..165434370hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17400063
Samples
Known GenesGRB14
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5889285
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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