A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5607029



Internal ID21555334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:203500071..203500071hg38UCSC Ensembl
chr1:203469199..203469199hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38341
hg19341
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17062588
SamplesHG00731
Known GenesOPTC
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5607029
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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