A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975119



Internal ID22750054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:32773926..32773926hg38UCSC Ensembl
chr18:30353889..30353889hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17387607
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975119
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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