A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17004616



Internal ID70711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147656148..147666470hg38UCSC Ensembl
chr7:147353240..147363562hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3810323
hg1910323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5491470
Supporting Variants
Samples
Known GenesCNTNAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17004616
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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