A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2815213



Internal ID21260551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:5930764..5930764hg38UCSC Ensembl
chr7:5970395..5970395hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13700478
Samples
Known GenesRSPH10B, RSPH10B2
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2815213
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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