A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5902172



Internal ID22677327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230310337..230400551hg38UCSC Ensembl
chr2:231175052..231265266hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3890215
hg1990215
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17393224
Samples
Known GenesSP140, SP140L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5902172
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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