A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430970



Internal ID209763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:14962843..14962894hg38UCSC Ensembl
chr21:16335164..16335215hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17734086
Samples
Known GenesNRIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430970
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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