A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5930088



Internal ID22705349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:49333344..49334524hg38UCSC Ensembl
chr17:47410706..47411886hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg381181
hg191181
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17373204
Samples
Known GenesZNF652
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5930088
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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