A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17384572



Internal ID22442442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64074340..64074340hg38UCSC Ensembl
chr14:64541058..64541058hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38186
hg19186
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5973108
Supporting Variants
Samples
Known GenesMIR548AZ, SYNE2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17384572
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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