A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17144896



Internal ID21462573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:93862966..93862966hg38UCSC Ensembl
chr5:93198672..93198672hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg381720
hg191720
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5639505
Supporting Variants
SamplesHG03009
Known GenesFAM172A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17144896
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