A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17385460



Internal ID22443330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:87492119..87492119hg38UCSC Ensembl
chr13:88144374..88144374hg19UCSC Ensembl
Cytoband13q31.2
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5969861
Supporting Variants
Samples
Known GenesMIR4500HG
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17385460
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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