A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17375139



Internal ID22600808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42361603..42500560hg38UCSC Ensembl
chr17:40513621..40652578hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38138958
hg19138958
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5935668
Supporting Variants
Samples
Known GenesATP6V0A1, PTRF, STAT3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17375139
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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