A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6426306



Internal ID21083859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147291168..147405355hg38UCSC Ensembl
chr7:146988260..147102447hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38114188
hg19114188
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18153875
Samples
Known GenesCNTNAP2, MIR548F4, MIR548I4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6426306
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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