A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17492571



Internal ID22550498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:47597499..47600559hg38UCSC Ensembl
chr3:47638989..47642049hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg383061
hg193061
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5836030
Supporting Variants
Samples
Known GenesSMARCC1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17492571
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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