A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5927068



Internal ID22702296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1957998..1958516hg38UCSC Ensembl
chr12:2067164..2067682hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38519
hg19519
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17363062
Samples
Known GenesDCP1B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5927068
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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