A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17396710



Internal ID22454580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:88792180..88794142hg38UCSC Ensembl
chr1:89257863..89259825hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg381963
hg191963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5870710
Supporting Variants
Samples
Known GenesPKN2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17396710
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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