A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5920481



Internal ID22695704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:102449463..102546319hg38UCSC Ensembl
chr11:102320194..102417050hg19UCSC Ensembl
Cytoband11q22.2
Allele length
AssemblyAllele length
hg3896857
hg1996857
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17365471
Samples
Known GenesMMP7, TMEM123
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5920481
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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