A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5407972



Internal ID187302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:34651184..34651235hg38UCSC Ensembl
chr7:34690796..34690847hg19UCSC Ensembl
Cytoband7p14.3
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 Variantsnssv16994695
Samples
Known GenesNPSR1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5407972
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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