A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17460002



Internal ID22517888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:133233233..133239368hg38UCSC Ensembl
chr12:133809819..133815954hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg386136
hg196136
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5857582
Supporting Variants
Samples
Known GenesANHX
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17460002
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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