A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5899982



Internal ID22675119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:147002831..147013421hg38UCSC Ensembl
chr6:147323967..147334557hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg3810591
hg1910591
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17418515
Samples
Known GenesSTXBP5-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5899982
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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