A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6429334



Internal ID21086887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:140016565..141119379hg38UCSC Ensembl
chr7:139716365..140819179hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg381102815
hg191102815
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18228131
Samples
Known GenesADCK2, BRAF, DENND2A, JHDM1D-AS1, KDM7A, MKRN1, MRPS33, NDUFB2, NDUFB2-AS1, PARP12, RAB19, SLC37A3, TBXAS1, TMEM178B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6429334
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