A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5605657



Internal ID21553962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:54585480..54585480hg38UCSC Ensembl
chr2:54812617..54812617hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38264
hg19264
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17114456
SamplesHG03732
Known GenesSPTBN1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5605657
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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