A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5854250



Internal ID22629185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4628550..4633733hg38UCSC Ensembl
chr12:4737716..4742899hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg385184
hg195184
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv323n209
Supporting Variantsnssv17450642, nssv17456070
Samples
Known GenesAKAP3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5854250
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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