A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18002845



Internal ID20569885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:63995801..63996600hg38UCSC Ensembl
chr12:64389581..64390380hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38800
hg19800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6464539
Supporting Variants
Samples
Known GenesSRGAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18002845
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00018


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