A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4756024



Internal ID20531884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5511983..5511983hg38UCSC Ensembl
chr17:5415303..5415303hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16272427
Samples
Known GenesNLRP1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4756024
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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