A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17082095



Internal ID21405248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:61762420..61762420hg38UCSC Ensembl
chr14:62229138..62229138hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5645916
Supporting Variants
SamplesHG00512
Known GenesSNAPC1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17082095
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