A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6457015



Internal ID21114568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2828610..2831354hg38UCSC Ensembl
chr12:2937776..2940520hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg382745
hg192745
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18190375
Samples
Known GenesNRIP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6457015
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