A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5624790



Internal ID21573095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:151273210..151273210hg38UCSC Ensembl
chr6:151594345..151594345hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38662
hg19662
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17140941
SamplesHG00864
Known GenesAKAP12
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5624790
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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