A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17125282



Internal ID21407521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137059138..137059138hg38UCSC Ensembl
chr5:136394827..136394827hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38235
hg19235
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5627983
Supporting Variants
SamplesHG00512
Known GenesSPOCK1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17125282
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