A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6382171



Internal ID21039724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:112404723..112620952hg38UCSC Ensembl
chr4:113325879..113542108hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg38216230
hg19216230
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18209548
Samples
Known GenesALPK1, C4orf21, NEUROG2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6382171
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