A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714641



Internal ID138307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75452022..75478033hg38UCSC Ensembl
chr17:73448103..73474114hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3826012
hg1926012
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6145931
Supporting Variants
Samples
Known GenesKIAA0195
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714641
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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