A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17388976



Internal ID22446846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:75925125..77416814hg38UCSC Ensembl
chr14:76391468..77883157hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381491690
hg191491690
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5931678
Supporting Variants
Samples
Known GenesANGEL1, C14orf166B, ESRRB, GPATCH2L, GSTZ1, IFT43, IRF2BPL, KIAA1737, LOC100506603, MIR1260A, NGB, NOXRED1, POMT2, RNU6-19P, RNU6-31P, SAMD15, TGFB3, TMED8, TMEM63C, TTLL5, VASH1, ZDHHC22
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17388976
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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