A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5607802



Internal ID21556107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:85277341..85277341hg38UCSC Ensembl
chr1:85743024..85743024hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17066514
SamplesHG02587
Known GenesLOC646626
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5607802
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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