A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2819349



Internal ID21264688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:70221381..70221381hg38UCSC Ensembl
chr9:72836297..72836297hg19UCSC Ensembl
Cytoband9q21.12
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13707657
Samples
Known GenesMAMDC2, SMC5-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2819349
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