A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6342464



Internal ID21000017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:3358584..3733752hg38UCSC Ensembl
chr2:3362355..3781342hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38375169
hg19418988
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206851
Samples
Known GenesADI1, ALLC, COLEC11, RNASEH1, RNASEH1-AS1, RPS7, TRAPPC12, TSSC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6342464
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