A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17618946



Internal ID21810993
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 StatusS
Merged Variantsnsv6021189
Supporting Variants
Samples
Known GenesEPN2, EPN2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17618946
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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