A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5870968



Internal ID22645905
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 Variantsnssv17395001
Samples
Known GenesNT5C1B, NT5C1B-RDH14
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5870968
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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