A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5582253



Internal ID21530764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:6463881..6464016hg38UCSC Ensembl
chr7:6503512..6503647hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17141320
SamplesHG03009
Known GenesKDELR2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5582253
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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