A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6048758



Internal ID21957993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234325987..234325987hg38UCSC Ensembl
chr1:234461733..234461733hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17527220
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6048758
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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