A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5928586



Internal ID22703828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40653822..40658809hg38UCSC Ensembl
chr17:38810074..38815061hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg384988
hg194988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17386215
Samples
Known GenesKRT222
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5928586
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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