A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17458071



Internal ID22515952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:75327916..75334500hg38UCSC Ensembl
chr12:75721696..75728280hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg386585
hg196585
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5863184
Supporting Variants
Samples
Known GenesCAPS2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17458071
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