A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17400628



Internal ID22458498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:14980613..14980613hg38UCSC Ensembl
chr21:16352934..16352934hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38343
hg19343
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5978675
Supporting Variants
Samples
Known GenesNRIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17400628
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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