A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558667



Internal ID331724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:182899135..182901398hg38UCSC Ensembl
chr1:182868270..182870533hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg382264
hg192264
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892836
Samples
Known GenesSHCBP1L
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558667
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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