A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6473617



Internal ID21131170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3972756..5647610hg38UCSC Ensembl
chr12:4081922..5756776hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381674855
hg191674855
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18185114
Samples
Known GenesAKAP3, ANO2, C12orf4, C12orf5, CCND2, DYRK4, FGF23, FGF6, GALNT8, KCNA1, KCNA5, KCNA6, NDUFA9, NTF3, RAD51AP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6473617
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