A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17467849



Internal ID22525739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:67066180..67070501hg38UCSC Ensembl
chr14:67532897..67537218hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg384322
hg194322
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5865454
Supporting Variants
Samples
Known GenesGPHN
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17467849
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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