A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17447769



Internal ID22505639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:5705312..5710558hg38UCSC Ensembl
chr6:5705545..5710791hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg385247
hg195247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5901416
Supporting Variants
Samples
Known GenesFARS2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17447769
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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