A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17998576



Internal ID20565616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29348201..29349800hg38UCSC Ensembl
chr12:29501134..29502733hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg381600
hg191600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6473644
Supporting Variants
Samples
Known GenesERGIC2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17998576
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00086


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