A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17352263



Internal ID22577932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95627013..95700426hg38UCSC Ensembl
chr12:96020789..96094202hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3873414
hg1973414
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5929554
Supporting Variants
Samples
Known GenesNTN4, PGAM1P5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17352263
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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