A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17390548



Internal ID22448418
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 StatusS
Merged Variantsnsv5903812
Supporting Variants
Samples
Known GenesERBB4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17390548
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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