A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5903812



Internal ID22678983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:211486447..211551029hg38UCSC Ensembl
chr2:212351172..212415754hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3864583
hg1964583
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17390548
Samples
Known GenesERBB4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5903812
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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