A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2791236



Internal ID21236575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:21482029..21482029hg38UCSC Ensembl
chr12:21634963..21634963hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13677859
Samples
Known GenesRECQL
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2791236
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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