A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5878606



Internal ID22653572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:102492658..102492745hg38UCSC Ensembl
chr2:103109117..103109204hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17401568
Samples
Known GenesSLC9A4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5878606
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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