A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5611000



Internal ID21559305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:8342138..8342138hg38UCSC Ensembl
chr1:8402198..8402198hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg38760
hg19760
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17067014
SamplesHG03732
Known GenesSLC45A1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5611000
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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