A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555150



Internal ID328316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8638660..8638695hg38UCSC Ensembl
chr12:8791256..8791291hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17055734
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555150
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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