A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5922011



Internal ID22697235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:98199761..98216829hg38UCSC Ensembl
chr7:97829073..97846141hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg3817069
hg1917069
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17436345
Samples
Known GenesBHLHA15, LMTK2, TECPR1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5922011
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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