A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5973685



Internal ID22748620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30677292..30677292hg38UCSC Ensembl
chr16:30688613..30688613hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38154
hg19154
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17388534
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5973685
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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