A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17707604



Internal ID131270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29544243..29558643hg38UCSC Ensembl
chr16:29555564..29569964hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3814401
hg1914401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5527795
Supporting Variants
Samples
Known GenesLOC440354
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17707604
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000159


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