A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17379756



Internal ID22437626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56871957..56872795hg38UCSC Ensembl
chr16:56905869..56906707hg19UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg38839
hg19839
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5940210
Supporting Variants
Samples
Known GenesSLC12A3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17379756
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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