A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5942929



Internal ID22718373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124208383..124208994hg38UCSC Ensembl
chr12:124692929..124693540hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38612
hg19612
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17365266
Samples
Known GenesZNF664-FAM101A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5942929
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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