A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5902615



Internal ID22677775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177149188..177156121hg38UCSC Ensembl
chr5:176576189..176583122hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg386934
hg196934
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17410820
Samples
Known GenesNSD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5902615
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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