A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17361405



Internal ID22587074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52070931..52073558hg38UCSC Ensembl
chr12:52464715..52467342hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg382628
hg192628
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5929090
Supporting Variants
Samples
Known GenesC12orf44
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17361405
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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