A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5945084



Internal ID22720558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5511973..5512055hg38UCSC Ensembl
chr17:5415293..5415375hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17383117
Samples
Known GenesNLRP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5945084
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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