A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5916212



Internal ID22691431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:81762550..81846688hg38UCSC Ensembl
chr8:82674785..82758923hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg3884139
hg1984139
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17439713
Samples
Known GenesSNX16
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5916212
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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