A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17167954



Internal ID21480466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:74435515..74435515hg38UCSC Ensembl
chrX:73655350..73655350hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5621107
Supporting Variants
SamplesHG03683
Known GenesSLC16A2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17167954
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