A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5954666



Internal ID22729901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:69859742..69859742hg38UCSC Ensembl
chr2:70086874..70086874hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17390607
Samples
Known GenesGMCL1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5954666
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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