A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15176035



Internal ID21314831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45969567..45969670hg38UCSC Ensembl
chr17:44046933..44047036hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3948755
Supporting Variants
SamplesHG002
Known GenesMAPT
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15176035
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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