A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5947149



Internal ID22722651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:18727833..18728616hg38UCSC Ensembl
chr19:18838643..18839426hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38784
hg19784
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17401143
Samples
Known GenesCRTC1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5947149
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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