A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6144344



Internal ID343549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:15721000..15739200hg38UCSC Ensembl
chr17:15624314..15642514hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3818201
hg1918201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711723
Samples
Known GenesTBC1D26
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6144344
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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