A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5431221



Internal ID210004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:6641462..6641505hg38UCSC Ensembl
chr17:6544782..6544825hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38297
hg19297
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711136
Samples
Known GenesTXNDC17
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5431221
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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