A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5857883



Internal ID22632818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:97950492..97951591hg38UCSC Ensembl
chr8:98962720..98963819hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg381100
hg191100
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17510308, nssv17510307
Samples
Known GenesMATN2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5857883
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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