A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5562472



Internal ID335426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36331270..36331332hg38UCSC Ensembl
chr21:37703568..37703630hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38932
hg19932
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17726774
Samples
Known GenesMORC3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5562472
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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