A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730688



Internal ID21757009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:66811687..66811687hg38UCSC Ensembl
chr7:66276674..66276674hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38433
hg19433
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236194
Samples
Known GenesGTF2IRD1P1
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)nsv5730688
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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