A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5970452



Internal ID22745387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50180319..50180319hg38UCSC Ensembl
chr17:48257680..48257680hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17377549
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5970452
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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