A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5396244



Internal ID175664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:135874198..135874249hg38UCSC Ensembl
chr2:136631768..136631819hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16918869
Samples
Known GenesMCM6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5396244
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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