A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6378174



Internal ID21035727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:30284953..30286519hg38UCSC Ensembl
chr5:30285060..30286626hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg381567
hg191567
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18130692
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6378174
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