A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17708007



Internal ID131673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:23627298..23632821hg38UCSC Ensembl
chr16:23638619..23644142hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg385524
hg195524
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5528863
Supporting Variants
Samples
Known GenesPALB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17708007
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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