A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6349429



Internal ID21006982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:37136210..37198359hg38UCSC Ensembl
chr2:37363353..37425502hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg3862150
hg1962150
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206900
Samples
Known GenesCEBPZ-AS1, EIF2AK2, SULT6B1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6349429
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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