A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17368713



Internal ID22594382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:127940393..127944448hg38UCSC Ensembl
chr12:128424938..128428993hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg384056
hg194056
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5936536
Supporting Variants
Samples
Known GenesLINC00507
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17368713
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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