A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975226



Internal ID22750161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40277723..40277723hg38UCSC Ensembl
chr17:38433975..38433975hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17373190
Samples
Known GenesWIPF2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975226
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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