A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17506498



Internal ID22564446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:53318565..53321214hg38UCSC Ensembl
chr6:53183363..53186012hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg382650
hg192650
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5845645
Supporting Variants
Samples
Known GenesELOVL5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17506498
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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