A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18145721



Internal ID20712761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51945370..52013727hg38UCSC Ensembl
chr6:51810168..51878525hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg3868358
hg1968358
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6414097
Supporting Variants
Samples
Known GenesPKHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18145721
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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