A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17063595



Internal ID21469450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235412165..235412165hg38UCSC Ensembl
chr1:235575480..235575480hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5608137
Supporting Variants
SamplesHG03125
Known GenesTBCE
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17063595
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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