A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5929989



Internal ID22705249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:19354807..19355812hg38UCSC Ensembl
chr17:19258120..19259125hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg381006
hg191006
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17387130
Samples
Known GenesB9D1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5929989
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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