A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5648830



Internal ID21597135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:126473080..126473080hg38UCSC Ensembl
chr11:126342975..126342975hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17073087, nssv17073086, nssv17073085
SamplesHG02492, HG00512, HG00731
Known GenesKIRREL3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5648830
Frequency
Sample Size35
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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