A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17710755



Internal ID134421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:950700..1065300hg38UCSC Ensembl
chr17:853940..968540hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38114601
hg19114601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6145674
Supporting Variants
Samples
Known GenesABR, MIR3183, NXN, TIMM22
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17710755
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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