A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5977656



Internal ID22752591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55296057..55296057hg38UCSC Ensembl
chr12:55689841..55689841hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17358629
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5977656
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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