A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5974742



Internal ID22749677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:59569700..59569700hg38UCSC Ensembl
chr17:57647061..57647061hg19UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17380679
Samples
Known GenesDHX40
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5974742
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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