A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5597192



Internal ID21545803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:74117048..74117143hg38UCSC Ensembl
chr11:73828093..73828188hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17076056
SamplesHG00731
Known GenesC2CD3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5597192
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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