A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17379219



Internal ID22437089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2677070..2677744hg38UCSC Ensembl
chr17:2580364..2581038hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38675
hg19675
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5928262
Supporting Variants
Samples
Known GenesPAFAH1B1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17379219
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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