A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6144812



Internal ID344017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:14239111..14318100hg38UCSC Ensembl
chr17:14142428..14221417hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3878990
hg1978990
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711609
Samples
Known GenesHS3ST3B1, MGC12916
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6144812
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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