A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17063594



Internal ID21433454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235412143..235412143hg38UCSC Ensembl
chr1:235575458..235575458hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38349
hg19349
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5611042
Supporting Variants
SamplesHG00731
Known GenesTBCE
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17063594
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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