A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5394061



Internal ID173496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:136379347..136379398hg38UCSC Ensembl
chr6:136700485..136700536hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16970099
Samples
Known GenesMAP7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5394061
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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