A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5399515



Internal ID178904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:198165679..198165730hg38UCSC Ensembl
chr1:198134809..198134860hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16894567
Samples
Known GenesNEK7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5399515
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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