A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5944913



Internal ID22720385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:6411918..6418409hg38UCSC Ensembl
chr17:6315238..6321729hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg386492
hg196492
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17374717
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5944913
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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