A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17436129



Internal ID22493999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:8076449..8077916hg38UCSC Ensembl
chr6:8076682..8078149hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg381468
hg191468
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5901197
Supporting Variants
Samples
Known GenesEEF1E1, EEF1E1-BLOC1S5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17436129
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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