A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5903098



Internal ID22678262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:179516809..179517533hg38UCSC Ensembl
chr2:180381536..180382260hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38725
hg19725
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17392798
Samples
Known GenesZNF385B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5903098
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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