A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5407637



Internal ID186968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:37688274..37688325hg38UCSC Ensembl
chr9:37688271..37688322hg19UCSC Ensembl
Cytoband9p13.2
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 Variantsnssv17024775
Samples
Known GenesFRMPD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5407637
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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