A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18229738



Internal ID20796778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:16488091..16814114hg38UCSC Ensembl
chr7:16527716..16853738hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg38326024
hg19326023
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6602987
Supporting Variants
Samples
Known GenesAGR2, ANKMY2, BZW2, LRRC72, TSPAN13
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18229738
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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