A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714664



Internal ID138330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75803980..75809980hg38UCSC Ensembl
chr17:73800061..73806061hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6144814
Supporting Variants
Samples
Known GenesUNK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714664
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000969


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