A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18000673



Internal ID20567713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:44257901..44258500hg38UCSC Ensembl
chr12:44651684..44652283hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38600
hg19600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6459824
Supporting Variants
Samples
Known GenesTMEM117
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18000673
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