A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2818048



Internal ID21263386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143213590..143213646hg38UCSC Ensembl
chr8:144295465..144295521hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13705266
Samples
Known GenesGPIHBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2818048
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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