A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5918593



Internal ID22693814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6297052..6298435hg38UCSC Ensembl
chr12:6406218..6407601hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381384
hg191384
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17365525
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5918593
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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