A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17148552



Internal ID21475795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:53240733..53240733hg38UCSC Ensembl
chr6:53105531..53105531hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5639482
Supporting Variants
SamplesHG03486
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17148552
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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