A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17222315



Internal ID21669824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:34651184..34651184hg38UCSC Ensembl
chr7:34690796..34690796hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5692792
Supporting Variants
Samples
Known GenesNPSR1-AS1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17222315
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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