A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5931540



Internal ID22706826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:6578801..6579060hg38UCSC Ensembl
chr17:6482121..6482380hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17387907
Samples
Known GenesKIAA0753
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5931540
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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