A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5929554



Internal ID22704810
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 StatusM
Merged Variants
Supporting Variantsnssv17352263
Samples
Known GenesNTN4, PGAM1P5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5929554
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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