A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5913653



Internal ID22688869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:78669386..78669461hg38UCSC Ensembl
chr8:79581621..79581696hg19UCSC Ensembl
Cytoband8q21.12
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17429671
Samples
Known GenesZC2HC1A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5913653
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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