A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5396824



Internal ID176237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:136856925..136856976hg38UCSC Ensembl
chr6:137178063..137178114hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16969224
Samples
Known GenesPEX7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5396824
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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