A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17388823



Internal ID22446693
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 StatusS
Merged Variantsnsv5946835
Supporting Variants
Samples
Known GenesHIF1A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17388823
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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