A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5944006



Internal ID22719464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:44106038..44111510hg38UCSC Ensembl
chr13:44680174..44685646hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg385473
hg195473
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17384215
Samples
Known GenesSMIM2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5944006
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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