A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17724961



Internal ID148627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:61482671..61482725hg38UCSC Ensembl
chr17:59560032..59560086hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5531475
Supporting Variants
Samples
Known GenesTBX4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17724961
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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