A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6525436



Internal ID20898797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47329980..47336323hg38UCSC Ensembl
chr17:45407346..45413689hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg386344
hg196344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18035967
Samples
Known GenesEFCAB13
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6525436
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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