A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6144532



Internal ID343737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1617111..1721111hg38UCSC Ensembl
chr17:1520405..1624405hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38104001
hg19104001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17710832
Samples
Known GenesMIR22, MIR22HG, PRPF8, RILP, SCARF1, SLC43A2, TLCD2, WDR81
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6144532
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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