A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5594640



Internal ID21543240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:9949145..9949202hg38UCSC Ensembl
chr17:9852462..9852519hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17099895
SamplesNA19238
Known GenesGAS7
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5594640
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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