A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18176816



Internal ID20743856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:127635874..127649456hg38UCSC Ensembl
chr9:130398153..130411735hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg3813583
hg1913583
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6451231
Supporting Variants
Samples
Known GenesSTXBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18176816
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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