A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17441449



Internal ID22499319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:89099413..89099413hg38UCSC Ensembl
chr6:89809132..89809132hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5962900
Supporting Variants
Samples
Known GenesSRSF12
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17441449
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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