A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17457413



Internal ID22515294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109490..121546hg38UCSC Ensembl
chr12:218656..230712hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3812057
hg1912057
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5860610
Supporting Variants
Samples
Known GenesIQSEC3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17457413
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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