A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975625



Internal ID22750560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:11908445..11908445hg38UCSC Ensembl
chr16:12002302..12002302hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg38204
hg19204
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17380515
Samples
Known GenesGSPT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975625
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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