A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17704653



Internal ID128319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:12261164..12261446hg38UCSC Ensembl
chr16:12355021..12355303hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg38283
hg19283
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6144294
Supporting Variants
Samples
Known GenesSNX29
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17704653
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.046221


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