A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17454884



Internal ID22512761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:75330016..75334800hg38UCSC Ensembl
chr12:75723796..75728580hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg384785
hg194785
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5854057
Supporting Variants
Samples
Known GenesCAPS2, GLIPR1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17454884
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer