A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17478842



Internal ID22536744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5578618..5587896hg38UCSC Ensembl
chr17:5481938..5491216hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg389279
hg199279
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5872846
Supporting Variants
Samples
Known GenesNLRP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17478842
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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