A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17367910



Internal ID22593579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27595327..27684455hg38UCSC Ensembl
chr12:27748260..27837388hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3889129
hg1989129
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5926950
Supporting Variants
Samples
Known GenesPPFIBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17367910
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer