A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5946835



Internal ID22722332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:61712882..61713610hg38UCSC Ensembl
chr14:62179600..62180328hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38729
hg19729
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17388823
Samples
Known GenesHIF1A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5946835
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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