A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5940138



Internal ID22715543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75150442..75175508hg38UCSC Ensembl
chr17:73146537..73171603hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3825067
hg1925067
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17382566
Samples
Known GenesHN1, SUMO2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5940138
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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