A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17366753



Internal ID22592422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57697890..57697890hg38UCSC Ensembl
chr12:58091673..58091673hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38164
hg19164
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5975953
Supporting Variants
Samples
Known GenesOS9
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17366753
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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