A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18183739



Internal ID20750779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29972566..29979335hg38UCSC Ensembl
chr17:28299584..28306353hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg386770
hg196770
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6515551
Supporting Variants
Samples
Known GenesEFCAB5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18183739
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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