A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17488752



Internal ID22546669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:181675173..181677406hg38UCSC Ensembl
chr2:182539900..182542133hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg382234
hg192234
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5832281
Supporting Variants
Samples
Known GenesNEUROD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17488752
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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