A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6045520



Internal ID21954785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47168824..47168824hg38UCSC Ensembl
chr2:47395963..47395963hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17532092
Samples
Known GenesCALM2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6045520
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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