A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17469255



Internal ID22527146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122700851..122716221hg38UCSC Ensembl
chr12:123185398..123200768hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3815371
hg1915371
Variant TypeOTHER copy number variation
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5857203
Supporting Variants
Samples
Known GenesHCAR2, HCAR3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17469255
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