A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17098070



Internal ID21407895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51197043..51197043hg38UCSC Ensembl
chr12:51590826..51590826hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5654926
Supporting Variants
SamplesHG00512
Known GenesPOU6F1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17098070
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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