A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555456



Internal ID328612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212225762..212225796hg38UCSC Ensembl
chr1:212399104..212399138hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38479
hg19479
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896091
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555456
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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