A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5945740



Internal ID22721221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:11984574..11984701hg38UCSC Ensembl
chr18:11984573..11984700hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17388510
Samples
Known GenesIMPA2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5945740
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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