A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5592313



Internal ID21540894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1508734..1508788hg38UCSC Ensembl
chr17:1412028..1412082hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17091282
SamplesHG00512
Known GenesINPP5K
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5592313
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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