A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6458701



Internal ID21116254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7003782..7004522hg38UCSC Ensembl
chr12:7111087..7111827hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38741
hg19741
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18002528
Samples
Known GenesLPCAT3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6458701
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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