A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556943



Internal ID330061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:31801164..31801168hg38UCSC Ensembl
chr1:32266765..32266769hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg385
hg195
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901924
Samples
Known GenesSPOCD1
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556943
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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