A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17368523



Internal ID22594192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161110017..161110323hg38UCSC Ensembl
chr1:161079807..161080113hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5870326
Supporting Variants
Samples
Known GenesPFDN2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17368523
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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