A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6044972



Internal ID21954242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43607414..43607414hg38UCSC Ensembl
chr1:44073085..44073085hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38366
hg19366
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17518751
Samples
Known GenesPTPRF
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6044972
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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