A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6003772



Internal ID21913115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51652550..51652877hg38UCSC Ensembl
chr6:51517348..51517675hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17559181
Samples
Known GenesPKHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6003772
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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