A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6504742



Internal ID20878005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5029289..5045936hg38UCSC Ensembl
chr17:4932584..4949231hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3816648
hg1916648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18036160
Samples
Known GenesSLC52A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6504742
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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