A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17250614



Internal ID21698123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:112539884..112539884hg38UCSC Ensembl
chr1:113082506..113082506hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381213
hg191213
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5715483
Supporting Variants
Samples
Known GenesST7L
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)nssv17250614
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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