A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5930404



Internal ID22705671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:12773725..12774932hg38UCSC Ensembl
chr17:12677042..12678249hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg381208
hg191208
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17372213
Samples
Known GenesLOC100128006
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5930404
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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