A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2812965



Internal ID21258303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:6616671..6616671hg38UCSC Ensembl
chr5:6616784..6616784hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13705369
Samples
Known GenesNSUN2
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2812965
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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