A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17463302



Internal ID22521188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3625787..3633989hg38UCSC Ensembl
chr12:3734953..3743155hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg388203
hg198203
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5862756
Supporting Variants
Samples
Known GenesEFCAB4B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17463302
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