A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17371978



Internal ID22597647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:49744369..49744526hg38UCSC Ensembl
chr16:49778280..49778437hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5929599
Supporting Variants
Samples
Known GenesZNF423
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17371978
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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