A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5523663



Internal ID299888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:425062..895576hg38UCSC Ensembl
chr17:274853..798816hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38470515
hg19523964
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17710673
Samples
Known GenesDBIL5P, FAM101B, FAM57A, GEMIN4, GLOD4, NXN, RNMTL1, VPS53
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5523663
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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