A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5976781



Internal ID22751716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5516070..5516070hg38UCSC Ensembl
chr17:5419390..5419390hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38463
hg19463
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17374159
Samples
Known GenesNLRP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5976781
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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