A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5934225



Internal ID22709547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:102045390..102045456hg38UCSC Ensembl
chr14:102511727..102511793hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17383338
Samples
Known GenesDYNC1H1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5934225
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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