A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5545149



Internal ID319220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:31801164..31801164hg38UCSC Ensembl
chr1:32266765..32266765hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901925
Samples
Known GenesSPOCD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5545149
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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