A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5941130



Internal ID22716549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76319997..76327381hg38UCSC Ensembl
chr17:74316078..74323462hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg387385
hg197385
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17369955
Samples
Known GenesPRPSAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5941130
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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