A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17461248



Internal ID22519131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30794383..30796182hg38UCSC Ensembl
chr12:30947317..30949116hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg381800
hg191800
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5854995
Supporting Variants
Samples
Known GenesLINC00941
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17461248
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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