A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6514089



Internal ID20887440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:6828085..6871945hg38UCSC Ensembl
chr17:6731404..6775264hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3843861
hg1943861
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18037574
Samples
Known GenesALOX12P2, TEKT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6514089
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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