A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5562302



Internal ID335260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:207740155..207740206hg38UCSC Ensembl
chr1:207913500..207913551hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg381316
hg191316
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16895020
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5562302
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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