A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16267459



Internal ID20476677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51989878..51989878hg38UCSC Ensembl
chr6:51854676..51854676hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4764304
Supporting Variants
Samples
Known GenesPKHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16267459
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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