A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5615502



Internal ID21563807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212963563..212963563hg38UCSC Ensembl
chr1:213136905..213136905hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17062475
SamplesHG00732
Known GenesVASH2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5615502
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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