A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17354507



Internal ID22580176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:44670576..44670576hg38UCSC Ensembl
chr12:45064359..45064359hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5973140
Supporting Variants
Samples
Known GenesNELL2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17354507
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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