A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18197628



Internal ID20764668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:6935598..8087852hg38UCSC Ensembl
chr18:6935597..8087850hg19UCSC Ensembl
Cytoband18p11.23
Allele length
AssemblyAllele length
hg381152255
hg191152254
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6516952
Supporting Variants
Samples
Known GenesLAMA1, LRRC30, PTPRM
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18197628
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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