A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17437663



Internal ID22495533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51931826..51931956hg38UCSC Ensembl
chr6:51796624..51796754hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5890035
Supporting Variants
Samples
Known GenesPKHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17437663
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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