A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5897052



Internal ID22672150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51652551..51652876hg38UCSC Ensembl
chr6:51517349..51517674hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17445182
Samples
Known GenesPKHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5897052
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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