A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5923419



Internal ID22698646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:107796700..107796787hg38UCSC Ensembl
chr7:107437145..107437232hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17443290
Samples
Known GenesSLC26A3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5923419
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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