A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5611230



Internal ID21559535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40273537..40273537hg38UCSC Ensembl
chr1:40739209..40739209hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17065242
SamplesNA20847
Known GenesZMPSTE24
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5611230
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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