A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5949513



Internal ID22724962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:13925069..13925069hg38UCSC Ensembl
chr6:13925300..13925300hg19UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17412749
Samples
Known GenesRNF182
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5949513
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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