A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17130351



Internal ID21470538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196317476..196317476hg38UCSC Ensembl
chr3:196044347..196044347hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5619188
Supporting Variants
SamplesHG03125
Known GenesTCTEX1D2, TM4SF19-TCTEX1D2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17130351
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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