A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2812019



Internal ID21257357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:174114275..174114275hg38UCSC Ensembl
chr5:173541278..173541278hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13700183
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2812019
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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