A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17153190



Internal ID21509726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:71653418..71653418hg38UCSC Ensembl
chr5:70949245..70949245hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5636190
Supporting Variants
SamplesNA20847
Known GenesMCCC2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17153190
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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