A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5947358



Internal ID22722862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:94165477..94801996hg38UCSC Ensembl
chr14:94631814..95268333hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg38636520
hg19636520
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17377134
Samples
Known GenesGSC, PPP4R4, SERPINA1, SERPINA10, SERPINA11, SERPINA12, SERPINA13P, SERPINA3, SERPINA4, SERPINA5, SERPINA6, SERPINA9
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5947358
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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