A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5567595



Internal ID21515933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:18571666..18571793hg38UCSC Ensembl
chr2:18752932..18753059hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17110796
SamplesHG03125
Known GenesNT5C1B, NT5C1B-RDH14
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5567595
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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