A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6021189



Internal ID21930532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:19296417..19298140hg38UCSC Ensembl
chr17:19199730..19201453hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg381724
hg191724
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17618946
Samples
Known GenesEPN2, EPN2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6021189
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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