A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17355923



Internal ID22581592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:13046134..13046237hg38UCSC Ensembl
chr12:13199068..13199171hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5923578
Supporting Variants
Samples
Known GenesKIAA1467
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17355923
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