A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6495623



Internal ID20868817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2182320..2183780hg38UCSC Ensembl
chr17:2085614..2087074hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg381461
hg191461
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18034333
Samples
Known GenesSMG6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6495623
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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