A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5977035



Internal ID22751970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30622179..30622179hg38UCSC Ensembl
chr12:30775113..30775113hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17368102
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5977035
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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