A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17108538



Internal ID21448639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:135846053..135846053hg38UCSC Ensembl
chr2:136603623..136603623hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg381351
hg191351
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5608252
Supporting Variants
SamplesHG00864
Known GenesMCM6
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17108538
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