A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17138600



Internal ID21475433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:186617813..186617813hg38UCSC Ensembl
chr4:187538967..187538967hg19UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg3819385
hg1919385
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5633709
Supporting Variants
SamplesHG03371
Known GenesFAT1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17138600
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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