A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427383



Internal ID206287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:38594629..38594629hg38UCSC Ensembl
chr17:36750882..36750882hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712978
Samples
Known GenesSRCIN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427383
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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