A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5405004



Internal ID184349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:125766505..125766556hg38UCSC Ensembl
chr10:127455074..127455125hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17040546
Samples
Known GenesMMP21
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5405004
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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