A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17373492



Internal ID22599161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:32964771..32968658hg38UCSC Ensembl
chr14:33433977..33437864hg19UCSC Ensembl
Cytoband14q13.1
Allele length
AssemblyAllele length
hg383888
hg193888
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5935121
Supporting Variants
Samples
Known GenesNPAS3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17373492
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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