A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17077475



Internal ID21487774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120458342..120459119hg38UCSC Ensembl
chr12:120896145..120896922hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38778
hg19778
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5586611
Supporting Variants
SamplesNA18534
Known GenesGATC
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17077475
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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