A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5599711



Internal ID21548347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8093455..8093963hg38UCSC Ensembl
chr17:7996773..7997281hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38509
hg19509
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17091008
SamplesHG03371
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5599711
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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