A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6504654



Internal ID20877917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4819770..4831820hg38UCSC Ensembl
chr17:4723065..4735115hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3812051
hg1912051
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18036044
Samples
Known GenesPLD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6504654
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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