A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6608936



Internal ID20982007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:48072678..48405520hg38UCSC Ensembl
chr7:48112275..48445117hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38332843
hg19332843
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18155462
Samples
Known GenesABCA13, UPP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6608936
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer