A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5870972



Internal ID22645909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:84829466..84829610hg38UCSC Ensembl
chr2:85056590..85056734hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17400338
Samples
Known GenesTRABD2A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5870972
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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