A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5614278



Internal ID21562583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:74727205..74727205hg38UCSC Ensembl
chr1:75192889..75192889hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg383713
hg193713
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17067243
SamplesHG00731
Known GenesCRYZ
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5614278
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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