A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17234496



Internal ID21682005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:120198489..120198489hg38UCSC Ensembl
chr1:145074464..145074464hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg381315
hg191315
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5719822
Supporting Variants
Samples
Known GenesLOC100288142, NBPF9, PDE4DIP
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)nssv17234496
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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