A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4760247



Internal ID20536107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220781009..220781009hg38UCSC Ensembl
chr1:220954351..220954351hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16280909
Samples
Known GenesMARC2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4760247
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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