A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6048788



Internal ID21958023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149390814..149390814hg38UCSC Ensembl
chr1:145209335..145209335hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17527830
Samples
Known GenesLOC100288142, NBPF9, NOTCH2NL
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6048788
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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