A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5622077



Internal ID21570382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:21514842..21514842hg38UCSC Ensembl
chr1:21841335..21841335hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg381500
hg191500
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17062662
SamplesHG03009
Known GenesALPL
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5622077
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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