A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17380404



Internal ID22438274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78232691..78232741hg38UCSC Ensembl
chr17:76228772..76228822hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5941210
Supporting Variants
Samples
Known GenesTMEM235
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17380404
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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