A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724751



Internal ID21751072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:105096616..105096616hg38UCSC Ensembl
chr7:104737063..104737063hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg38781
hg19781
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237907, nssv17238965
Samples
Known GenesKMT2E
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5724751
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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