A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17482075



Internal ID22539980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:211481512..211524456hg38UCSC Ensembl
chr2:212346237..212389181hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3842945
hg1942945
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5832187
Supporting Variants
Samples
Known GenesERBB4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17482075
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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