A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5926950



Internal ID22702178
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 StatusM
Merged Variants
Supporting Variantsnssv17367910
Samples
Known GenesPPFIBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5926950
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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