A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6144535



Internal ID343740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81689980..81739980hg38UCSC Ensembl
chr17:79657010..79707010hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3850001
hg1950001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17715604
Samples
Known GenesHGS, MIR6786, MRPL12, SLC25A10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6144535
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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