A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15183718



Internal ID21322514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54323696..54323768hg38UCSC Ensembl
chr14:54790414..54790486hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3947463
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15183718
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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