A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18190375



Internal ID20757415
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 StatusS
Merged Variantsnsv6457015
Supporting Variants
Samples
Known GenesNRIP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18190375
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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