A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18001431



Internal ID20568471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53107052..53113958hg38UCSC Ensembl
chr12:53500836..53507742hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg386907
hg196907
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6467598
Supporting Variants
Samples
Known GenesSOAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18001431
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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