A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17478277



Internal ID22536178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29672855..29680760hg38UCSC Ensembl
chr16:29684176..29692081hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg387906
hg197906
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5883184
Supporting Variants
Samples
Known GenesQPRT
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17478277
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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