A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5965007



Internal ID22739942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40273538..40273538hg38UCSC Ensembl
chr1:40739210..40739210hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38143
hg19143
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17371025
Samples
Known GenesZMPSTE24
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5965007
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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