A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17449197



Internal ID22507067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:73433229..73436609hg38UCSC Ensembl
chr8:74345464..74348844hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg383381
hg193381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5909534
Supporting Variants
Samples
Known GenesSTAU2, STAU2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17449197
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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