A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5967716



Internal ID22742651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18072530..18072530hg38UCSC Ensembl
chr17:17975844..17975844hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17378544
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5967716
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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