A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6378717



Internal ID21036270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:33559292..33575254hg38UCSC Ensembl
chr5:33559397..33575359hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3815963
hg1915963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18129679
Samples
Known GenesADAMTS12
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6378717
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