A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6531310



Internal ID20904671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:1421258..3155419hg38UCSC Ensembl
chr18:1421259..3155417hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg381734162
hg191734159
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18039265
Samples
Known GenesCBX3P2, EMILIN2, LOC727896, LPIN2, METTL4, MYOM1, NDC80, SMCHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6531310
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