A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6522633



Internal ID20895994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80392636..80422726hg38UCSC Ensembl
chr17:78366436..78396526hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3830091
hg1930091
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18038473
Samples
Known GenesENDOV, LOC100294362, MIR4730, RNF213
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6522633
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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