A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6619392



Internal ID20992463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:48192537..48550049hg38UCSC Ensembl
chr7:48232134..48589645hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38357513
hg19357512
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18155466
Samples
Known GenesABCA13
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6619392
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