A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5977365



Internal ID22752300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:28124451..28124451hg38UCSC Ensembl
chr12:28277384..28277384hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38388
hg19388
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17361081
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5977365
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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