A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3947527



Internal ID21367596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58460107..58460177hg38UCSC Ensembl
chr18:56127339..56127409hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15177249
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3947527
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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