A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5550023



Internal ID323624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:30317511..30317561hg38UCSC Ensembl
chr10:30606440..30606490hg19UCSC Ensembl
Cytoband10p11.23
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17031925
Samples
Known GenesMTPAP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5550023
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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