A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6464270



Internal ID21121823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:62995491..63989677hg38UCSC Ensembl
chr12:63389271..64383457hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38994187
hg19994187
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18192738
Samples
Known GenesAVPR1A, DPY19L2, SRGAP1, TMEM5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6464270
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