A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15203248



Internal ID21342054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:166997813..166997813hg38UCSC Ensembl
chr6:167411301..167411301hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381454
hg191454
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3944944
Supporting Variants
SamplesHG002
Known GenesMIR3939
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15203248
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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