A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5979767



Internal ID22754702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:103621305..103621305hg38UCSC Ensembl
chr12:104015083..104015083hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17356586
Samples
Known GenesSTAB2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5979767
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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