A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5930754



Internal ID22706026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76288443..76288577hg38UCSC Ensembl
chr17:74284524..74284658hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17388127
Samples
Known GenesQRICH2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5930754
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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