A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17383076



Internal ID22440946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41160328..41160432hg38UCSC Ensembl
chr17:39316580..39316684hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5934830
Supporting Variants
Samples
Known GenesKRTAP4-4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17383076
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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