A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17083250



Internal ID21505649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53803192..53803192hg38UCSC Ensembl
chr12:54196976..54196976hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38382
hg19382
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5660047
Supporting Variants
SamplesNA19650
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17083250
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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