A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17240639



Internal ID21688148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147198021..147198021hg38UCSC Ensembl
chr7:146895113..146895113hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38612
hg19612
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5717712
Supporting Variants
Samples
Known GenesCNTNAP2
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17240639
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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