A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17374631



Internal ID22600300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55325485..55325485hg38UCSC Ensembl
chr16:55359397..55359397hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38186
hg19186
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5970270
Supporting Variants
Samples
Known GenesIRX6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17374631
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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