A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5945376



Internal ID22720852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:59539320..59539655hg38UCSC Ensembl
chr14:60006038..60006373hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg38336
hg19336
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17384893
Samples
Known GenesCCDC175
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5945376
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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