A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17458692



Internal ID22516575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:60137629..60145753hg38UCSC Ensembl
chr14:60604347..60612471hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg388125
hg198125
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5848141
Supporting Variants
Samples
Known GenesDHRS7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17458692
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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