A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5941146



Internal ID22716565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81636206..81643232hg38UCSC Ensembl
chr17:79603232..79610258hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg387027
hg197027
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17376449
Samples
Known GenesNPLOC4, TSPAN10
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5941146
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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