A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17373271



Internal ID22598940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:78243388..78243388hg38UCSC Ensembl
chr1:78709072..78709072hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5956445
Supporting Variants
Samples
Known GenesMGC27382
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17373271
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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