A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6015590



Internal ID21924933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51931837..51931969hg38UCSC Ensembl
chr6:51796635..51796767hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17563242
Samples
Known GenesPKHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6015590
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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