A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5584595



Internal ID21533137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:71167970..71168322hg38UCSC Ensembl
chr11:70879016..70879368hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38353
hg19353
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17075701
SamplesHG00732
Known GenesSHANK2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5584595
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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