A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2812994



Internal ID21258332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76699627..76699627hg38UCSC Ensembl
chr5:75995452..75995452hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13704826
Samples
Known GenesIQGAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2812994
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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