A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17710754



Internal ID134420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:948868..1011928hg38UCSC Ensembl
chr17:852108..915168hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3863061
hg1963061
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6145901
Supporting Variants
Samples
Known GenesABR, NXN, TIMM22
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17710754
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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