A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5971221



Internal ID22746156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81958593..81958593hg38UCSC Ensembl
chr17:79916469..79916469hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17372262
Samples
Known GenesNOTUM
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5971221
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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