A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18005471



Internal ID20572512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8656793..8659364hg38UCSC Ensembl
chr12:8809389..8811960hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg382572
hg192572
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6460736
Supporting Variants
Samples
Known GenesMFAP5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18005471
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