A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17062629



Internal ID21457521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:209626459..209626459hg38UCSC Ensembl
chr1:209799804..209799804hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38499
hg19499
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5610013
Supporting Variants
SamplesHG02587
Known GenesLAMB3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17062629
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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