A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18134870



Internal ID20701910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:88951401..88952400hg38UCSC Ensembl
chr5:88247218..88248217hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6406024
Supporting Variants
Samples
Known GenesMEF2C-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18134870
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