A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17377315



Internal ID22435185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:27416037..27423899hg38UCSC Ensembl
chr17:25743063..25750925hg19UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg387863
hg197863
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5938759
Supporting Variants
Samples
Known GenesTBC1D3P5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17377315
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