A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5651788



Internal ID21600093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9853083..9853083hg38UCSC Ensembl
chr12:10005682..10005682hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17099246, nssv17091730
SamplesNA19239, HG02818
Known GenesCLEC2B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5651788
Frequency
Sample Size35
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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