A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5959448



Internal ID22734480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:105096600..105096600hg38UCSC Ensembl
chr7:104737047..104737047hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17437671
Samples
Known GenesKMT2E
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5959448
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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