A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16982568



Internal ID55742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51682616..51688818hg38UCSC Ensembl
chr6:51547414..51553616hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg386203
hg196203
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5469197
Supporting Variants
Samples
Known GenesPKHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16982568
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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