A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5936901



Internal ID22712262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80231274..80231409hg38UCSC Ensembl
chr17:78205073..78205208hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17373565
Samples
Known GenesSLC26A11
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5936901
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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