A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6064526



Internal ID21973759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78096896..78096896hg38UCSC Ensembl
chr5:77392720..77392720hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17556939
Samples
Known GenesAP3B1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6064526
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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