A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5941967



Internal ID22717398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63747984..63748118hg38UCSC Ensembl
chr17:61825344..61825478hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17382439
Samples
Known GenesCCDC47
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5941967
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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