A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17485912



Internal ID22543825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:126495911..126507935hg38UCSC Ensembl
chr2:127253488..127265512hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3812025
hg1912025
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5831460
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17485912
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