A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557997



Internal ID331074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:36431651..36431702hg38UCSC Ensembl
chr1:36897252..36897303hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38765
hg19765
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901447
Samples
Known GenesOSCP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557997
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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