A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17078784



Internal ID21437992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1620954..1620954hg38UCSC Ensembl
chr12:1730120..1730120hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38847
hg19847
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5650313
Supporting Variants
SamplesHG00731
Known GenesWNT5B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17078784
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