A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17455785



Internal ID22513662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54891421..54896820hg38UCSC Ensembl
chr14:55358139..55363538hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg385400
hg195400
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5865449
Supporting Variants
Samples
Known GenesGCH1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17455785
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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