A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17993872



Internal ID20560912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:73739237..73742240hg38UCSC Ensembl
chr11:73450282..73453285hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg383004
hg193004
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6469816
Supporting Variants
Samples
Known GenesRAB6A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17993872
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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