A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5963427



Internal ID22738362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:69060625..69060625hg38UCSC Ensembl
chr8:69972860..69972860hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38399
hg19399
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17441179
Samples
Known GenesLOC100505718
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5963427
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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