A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5613070



Internal ID21561375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:66983527..66983527hg38UCSC Ensembl
chr1:67449210..67449210hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38527
hg19527
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17066395
SamplesHG01505
Known GenesMIER1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5613070
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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