A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5553194



Internal ID326464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:17849136..17849187hg38UCSC Ensembl
chr10:18138065..18138116hg19UCSC Ensembl
Cytoband10p12.33
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17030460
Samples
Known GenesMRC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5553194
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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