A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5862014



Internal ID22636949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:82722526..82732271hg38UCSC Ensembl
chr12:83116305..83126050hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg389746
hg199746
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17465841
Samples
Known GenesTMTC2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5862014
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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