A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17078627



Internal ID21454504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:131766954..131767016hg38UCSC Ensembl
chr12:132251499..132251561hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5587641
Supporting Variants
SamplesHG02011
Known GenesSFSWAP
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17078627
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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