A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17235288



Internal ID21682797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:7997595..7997595hg38UCSC Ensembl
chr1:8057655..8057655hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg38387
hg19387
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5725588
Supporting Variants
Samples
Known Genes
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)nssv17235288
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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