A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5940845



Internal ID22716259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:21401174..21688567hg38UCSC Ensembl
chr17:21304486..21566608hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38287394
hg19262123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv890n209
Supporting Variantsnssv17370578
Samples
Known GenesC17orf51, KCNJ12, KCNJ18
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5940845
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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