A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719468



Internal ID21745789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:7134608..7134608hg38UCSC Ensembl
chr9:7134608..7134608hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17250154, nssv17240544
Samples
Known GenesKDM4C
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)nsv5719468
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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