A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18234568



Internal ID20801608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:129505487..129513203hg38UCSC Ensembl
chr7:129145328..129153044hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg387717
hg197717
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6425500
Supporting Variants
Samples
Known GenesSMKR1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18234568
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