A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5553785



Internal ID327002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:37611748..37611799hg38UCSC Ensembl
chr1:38077349..38077471hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902051
Samples
Known GenesRSPO1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5553785
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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