A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5963560



Internal ID22738495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125348253..125348253hg38UCSC Ensembl
chr8:126360495..126360495hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17440472
Samples
Known GenesNSMCE2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5963560
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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