A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5887075



Internal ID22662066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10813740..10813828hg38UCSC Ensembl
chr2:10953866..10953954hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17402367
Samples
Known GenesPDIA6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5887075
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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