A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6433940



Internal ID21091493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:130491101..130493000hg38UCSC Ensembl
chr7:130130942..130132841hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg381900
hg191900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18235325
Samples
Known GenesMEST, MESTIT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6433940
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