A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554012



Internal ID327208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:77324697..77329820hg38UCSC Ensembl
chr1:77790382..77795505hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg385124
hg195124
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16905359
Samples
Known GenesAK5
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554012
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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