A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5395719



Internal ID175141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:38946077..38946128hg38UCSC Ensembl
chr6:38913853..38913904hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38248
hg19248
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16983686
Samples
Known GenesDNAH8, LOC100131047
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5395719
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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