A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5869236



Internal ID22644171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74330854..74331207hg38UCSC Ensembl
chr2:74557981..74558334hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg38354
hg19354
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1149n209
Supporting Variantsnssv17401347
Samples
Known GenesSLC4A5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5869236
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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