A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18034888



Internal ID20601928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31395174..31396706hg38UCSC Ensembl
chr17:29722192..29723724hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381533
hg191533
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6511408
Supporting Variants
Samples
Known GenesRAB11FIP4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18034888
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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