A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5934134



Internal ID22709455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:70650159..70651035hg38UCSC Ensembl
chr18:68317395..68318271hg19UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg38877
hg19877
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17406561
Samples
Known GenesGTSCR1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5934134
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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