A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18140549



Internal ID20707590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:2327200..2331283hg38UCSC Ensembl
chr6:2327434..2331517hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg384084
hg194084
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6403695
Supporting Variants
Samples
Known GenesGMDS-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18140549
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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