A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5904551



Internal ID22679728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134729550..134733760hg38UCSC Ensembl
chr2:135487120..135491330hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg384211
hg194211
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17393180
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5904551
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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