A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17234476



Internal ID21681985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218330269..218330269hg38UCSC Ensembl
chr2:219194992..219194992hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5724758
Supporting Variants
Samples
Known GenesPNKD
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)nssv17234476
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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