A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17711198



Internal ID134864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7351000..7359111hg38UCSC Ensembl
chr17:7254319..7262430hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg388112
hg198112
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146108
Supporting Variants
Samples
Known GenesACAP1, KCTD11, TMEM95
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17711198
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002413


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