A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4433651



Internal ID21395653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178431274..178432273hg38UCSC Ensembl
chr2:179296001..179297000hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15746541
SamplesNB08
Known GenesMIR548N, PRKRA
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4433651
Frequency
Sample Size15
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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