A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2812136



Internal ID21257474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:56808550..56808550hg38UCSC Ensembl
chr5:56104377..56104377hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13709903
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2812136
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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