A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17376172



Internal ID22601841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56619255..56661122hg38UCSC Ensembl
chr16:56653167..56695034hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3841868
hg1941868
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5929985
Supporting Variants
Samples
Known GenesMT1A, MT1B, MT1DP, MT1E, MT1F, MT1JP, MT1M
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17376172
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