A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5968521



Internal ID22743456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:18420626..18420626hg38UCSC Ensembl
chr21:14422033..14422033hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17377005
Samples
Known GenesANKRD30BP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5968521
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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