A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17092145



Internal ID21501428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:44670576..44670576hg38UCSC Ensembl
chr12:45064359..45064359hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5654220
Supporting Variants
SamplesNA19239
Known GenesNELL2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17092145
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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